All CMT2C papers, ranked

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

Kosmanopoulos GP, Donohue JK, Hoke M et al. · 2025 · Brain: a journal of neurology

This is the largest description so far of people with TRPV4 neuromuscular disease, including CMT2C. It suggests that leg weakness (including near the hips), voice and breathing problems, and spine and foot problems are common. How fast the condition changes is still uncertain, because most people were seen only once.

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Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Landouré G, Zdebik AA, Martinez TL et al. · 2010 · Nature genetics

This is one of the papers that first linked CMT2C to TRPV4. It shows that limb, breathing and voice weakness, hearing loss and bladder urgency can occur in the same families, with very different severity even between a mother and daughter. The idea that an overactive channel harms nerves comes from cell experiments, not from studies in patients.

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Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4

Deng HX, Klein CJ, Yan J et al. · 2010 · Nature genetics

This paper is part of the original evidence that changes in TRPV4 cause CMT2C, and that the same gene causes the related condition SPSMA. Its early lab results suggested the faulty channel lets in too much calcium, though this was shown only in kidney-derived cells.

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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Auer-Grumbach M, Olschewski A, Papić L et al. · 2010 · Nature genetics

This is one of the first papers to show that changes in TRPV4 cause CMT2C and related conditions, and that relatives with the same change can have different diagnoses. Its cell experiments pointed to reduced channel function, but these came from a non-nerve cell line and the authors could not rule out other explanations.

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The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders

Klein CJ, Cunningham JM, Atkinson EJ et al. · 2003 · Neurology

This early study of one large family narrowed down where on chromosome 12 the CMT2C gene lies, but did not identify the gene itself. It also shows how differently the condition affected relatives in one family, from a baby with severe disease to adults whose only sign was a hoarse voice.

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Autosomal Dominant TRPV4-Related Disorders

McCray BA, Schindler A, Hoover-Fong JE et al. · 2014 (updated December 2025) · University of Washington, Seattle (WA)

This chapter is a standard clinical summary of TRPV4-related neuromuscular disease, including CMT2C. It describes a wide range of possible features. It also says that the age of onset and severity in any one person cannot be predicted, and that treatments aimed at the cause have so far only been tested in animals.

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TRPV4 mutations causing mixed neuropathy and skeletal phenotypes result in severe gain of function

Taga A, Peyton MA, Goretzki B et al. · 2022 · Annals of clinical and translational neurology

Some people with TRPV4 neuropathy also have skeletal differences, and in the published cases reviewed here these mixed cases tended to start early and to get worse over time. In cells, a TRPV4 blocker worked less well against some changes than others, which may matter for future drug trials; this has not been tested in people.

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Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2

Deng S, Feely SME, Shi Y et al. · 2020 · Neuromolecular medicine

In one USA clinic group, TRPV4 explained CMT2 in 2 of 62 people whose cause was otherwise unknown. Within one family, the condition ranged from mild to severe, with voice and breathing problems in some. The claim that some relatives carry the variant without disease is not backed by examining or testing them.

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TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

Klein CJ, Shi Y, Fecto F et al. · 2011 · Neurology

In this study, TRPV4 changes were found in only 2 of 17 families with a CMT2C picture. In one family, the same change caused vocal cord weakness in one person but not in two others. The cell results support the idea that the faulty channel lets in too much calcium, but the effect of blocking it was shown only in cultured cells here.

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Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy

Sullivan JM, Zimanyi CM, Aisenberg W et al. · 2015 · Neurology. Genetics

This paper adds two more CMT2C-causing changes to the list, both in the same part of the TRPV4 protein where many CMT2C changes sit, and all four people studied had voice involvement. The lab results fit the idea of an overactive channel, but they come from cells in a dish, not from people.

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Exome sequencing identifies a novel TRPV4 mutation in a CMT2C family

Landouré G, Sullivan JM, Johnson JO et al. · 2012 · Neurology

This family shows the typical CMT2C picture of limb weakness with voice and breathing involvement, and one member had hearing loss. It also shows that in this family an older genetic test missed a TRPV4 change for technical reasons.

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CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

Chen DH, Sul Y, Weiss M et al. · 2010 · Neurology

In these two families, people with the same TRPV4 change differed a lot, from no vocal cord problems to needing a permanent tracheotomy, and some were shorter than average. Two families are not enough to show whether short stature is a regular part of CMT2C.

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Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

Berciano J, Baets J, Gallardo E et al. · 2011 · Journal of neurology

In this family, people with the same TRPV4 change ranged from a severely affected child to a 70-year-old relative with no detectable signs on examination, nerve tests or leg MRI. It shows that carrying a TRPV4 change does not always mean having symptoms, but one family cannot say how often this happens.

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Zimoń M, Baets J, Auer-Grumbach M et al. · 2010 · Brain: a journal of neurology

This paper showed that TRPV4 changes can cause very different illnesses, even within one family, from problems present at birth to weakness starting in adulthood, often with vocal fold involvement. It also reported relatives who carried the change without known symptoms, but the paper does not describe how they were checked, so it remains uncertain how often carriers stay unaffected.

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Confirmation of a hereditary motor and sensory neuropathy IIC locus at chromosome 12q23-q24

McEntagart ME, Reid SL, Irrthum A et al. · 2005 · Annals of neurology

In these CMT2C families, symptoms began anywhere from birth to age 62, severity varied a lot within a family, and two people developed breathing failure and needed a machine to help them breathe. Some relatives who felt well had signs of the condition when examined and tested.

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A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review

Chen H, Sun C, Zheng Y et al. · 2023 · BMC neurology

This family report shows that the same TRPV4 change can look quite different in a parent and a child, and that nerve tests can find changes in someone without symptoms. It is one family, and the father's diabetes may have added to his nerve findings.

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Charcot-Marie-Tooth disease type 2C and scapuloperoneal muscular atrophy overlap syndrome in a patient with the R232C TRPV4 mutation

Koutsis G, Lynch D, Manole A et al. · 2015 · Journal of neurology

This single case shows that one person with a TRPV4 variant can have features of CMT2C and scapuloperoneal muscular atrophy together, with serious breathing and voice involvement, and that nerve test results can change over the years. It also reports a sister with the same variant described as unaffected, though with few details.

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Severe Multifocal Noninfectious Wound Dehiscence After Cavovarus Reconstruction in TRPV4-Associated Charcot-Marie-Tooth Disease Type 2C: A Case Report

Elhaddad M, Stibelman J, Carrillo-Kashani A et al. · 2026 · Foot & ankle specialist

This is one child's experience, so it cannot show that people with CMT2C heal worse after surgery. It raises a question that the authors say needs further research.

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Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study

Rance G, Tomlin D, Yiu EM et al. · 2024 · Journal of clinical medicine

In one child with a TRPV4 change, the hearing nerve and the ability to follow speech in noise got worse over 3 years even though a standard hearing test stayed normal. A remote-microphone system helped him. As this is a single case, it does not show how common this is in CMT2C or whether others would respond the same way.

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Case of Charcot-Marie-Tooth Type 2C Due to a TRPV4 Gene Mutation With Isolated Sudomotor Autonomic Dysfunction

Baker J, Kimpinski K · 2018 · Journal of clinical neuromuscular disease

In at least one person with CMT2C, the nerves that control sweating failed while heart rate and blood pressure control stayed normal, and she found it hard to keep cool. This single report cannot say how many people with CMT2C have this.

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Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder

Aharoni S, Harlalka G, Offiah A et al. · 2011 · American journal of medical genetics. Part A

In this one family, the same TRPV4 change caused very different severity between siblings, from needing a breathing tube from early life to almost no signs at age 14. Whether the 14-year-old brother will stay unaffected is not known, because he was young and did not have nerve tests.

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TRPV4 axonal neuropathy spectrum disorder

McEntagart M · 2012 · Journal of clinical neuroscience: official journal of the Neurosurgical Society of Australasia

This review describes TRPV4 neuropathy as mainly affecting the motor nerves, often with vocal cord weakness, and sometimes with hearing loss and bladder urgency. It notes that severity varies and that some people who carry a TRPV4 change may not show the condition.

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Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family

Santoro L, Manganelli F, Di Maio L et al. · 2002 · Neuromuscular disorders: NMD

In this family, how badly the vocal cords were affected did not match how weak the arms and legs were, and the people with the weakest limbs had few breathing symptoms. The abstract shows CMT2C was a separate condition from the other CMT2 types known at the time.

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Clinical, laboratory, and genetic studies of families with Charcot-Marie-Tooth type 2C disease

Landoure G · 2011 · University College London (University of London)

This thesis describes work that linked CMT2C in families to changes in the TRPV4 gene, including R269C and R269H. In lab cells these changes made the channel more active and more harmful to cells.

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Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis

Dyck PJ, Litchy WJ, Minnerath S et al. · 1994 · Annals of Neurology

This is the paper that first named the condition now called CMT2C. It described weakness of the limbs, vocal cords and breathing muscles that varied a lot between people, and sensory loss that people did not notice themselves.

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Varying occurrence of vocal cord paralysis in a family with autosomal dominant hereditary motor and sensory neuropathy

Donaghy M, Kennett R · 1999 · Journal of Neurology

In this family, two relatives with no symptoms at all had the neuropathy when their nerves were tested. It is an early example of why 'no symptoms' is not the same as 'not affected'.

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Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls

Fawcett KA, Murphy SM, Polke JM et al. · 2012 · Journal of neurology, neurosurgery, and psychiatry

In this large UK group, TRPV4 changes were a rare cause of axonal CMT and motor neuropathy, and some rare TRPV4 variants turned out to be harmless. The authors stress that a new TRPV4 variant needs careful checking before it is reported as the cause of someone's neuropathy.

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Hereditary motor and sensory neuropathy type 2C is genetically distinct from types 2B and 2D

Nagamatsu M, Jenkins RB, Schaid DJ et al. · 2000 · Archives of neurology

This paper is part of the history of how CMT2C was defined. It showed that the gene in a large CMT2C family did not lie where two other CMT2 genes had been mapped, but it did not find the gene and gives little clinical information.

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TRPV4 disrupts mitochondrial transport and causes axonal degeneration via a CaMKII-dependent elevation of intracellular Ca2

Woolums BM, McCray BA, Sung H et al. · 2020 · Nature communications

In flies and mouse nerve cells, a CMT2C-linked TRPV4 mutation made the channel overactive and damaged axons through calcium, an enzyme called CaMKII and stalled mitochondria (the cell's power stations). A TRPV4 blocker reduced the damage in flies. This points to possible treatment targets, but nothing here was tested in people.

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Neuropathy-causing TRPV4 mutations disrupt TRPV4-RhoA interactions and impair neurite extension

McCray BA, Diehl E, Sullivan JM et al. · 2021 · Nature communications

This lab study suggests one way CMT2C mutations might harm nerves: by breaking TRPV4's hold on RhoA, a protein that shapes nerve fibers. It was done in cells and flies, so it points to ideas for future research rather than anything shown in people.

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TRPV4-Rho GTPase complex structures reveal mechanisms of gating and disease

Kwon DH, Zhang F, McCray BA et al. · 2023 · Nature communications

This study gives a detailed picture of how a partner protein called RhoA may normally hold TRPV4 closed, and why CMT2C changes near that contact point could leave the channel too open. It is laboratory work on purified protein and cell lines, so it suggests a mechanism and a drug target rather than showing any effect in people.

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Profiling the TRPV4 ankyrin repeat domain interactome and its disruption by neuromuscular disease-causing mutations

Loder AK, Kosmanopoulos GP, Aisenberg WH et al. · 2026 · The Journal of biological chemistry

This laboratory study adds to evidence that disease-causing TRPV4 changes alter which partner proteins hold on to the channel's ankyrin region, and points to a protein called ARHGEF10 as one partner that may normally help calm the channel. It is early-stage work on chips and in cultured cells and does not test any treatment.

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Mutant TRPV4-mediated toxicity is linked to increased constitutive function in axonal neuropathies

Fecto F, Shi Y, Huda R et al. · 2011 · The Journal of biological chemistry

In lab cell lines, the TRPV4 changes linked to CMT2C and SPSMA made the channel open more often and let in more calcium, which harmed the cells. This supports the 'overactive channel' idea, but it was not tested in nerves or in people.

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Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel

Inada H, Procko E, Sotomayor M et al. · 2012 · Biochemistry

This study looked closely at the shape of the part of TRPV4 where several neuropathy changes sit. It did not find a simple reason why these changes damage nerves, and it has no direct implications for symptoms or treatment.

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TRPV4 channel activity is modulated by direct interaction of the ankyrin domain to PI(4,5)P2

Takahashi N, Hamada-Nakahara S, Itoh Y et al. · 2014 · Nature communications

This lab study suggests one way some CMT2C mutations could make TRPV4 too active: they stop a membrane fat from holding the channel down. It was done with a protein fragment and kidney-derived cells, so it is a clue to the mechanism, not something tested in patients.

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The impact of TRPV4 pathogenic mutations on barrier integrity

Sampaio G, Ismaili T, Torkamani A et al. · 2025 · Human molecular genetics

In lab-grown cells, some TRPV4 changes linked to CMT2C, including R269C, R269H and R315W, weakened the seal between cells, but 15 of the 22 neuropathy changes tested did not. The experimental blocker ABS-0872, made by the company that ran the study, prevented or reversed this in cells; the paper does not show whether it would help people.

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Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants

Berth SH, Vo L, Kwon DH et al. · 2025 · Brain: a journal of neurology

This study suggests that two things help judge whether a TRPV4 variant is likely to cause disease: whether it makes the channel overactive in lab tests, and features such as vocal cord weakness or problems from birth. The results come from cells in a dish and a small number of patients, so they are a guide but do not settle the status of an individual variant.

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Multiubiquitination of TRPV4 reduces channel activity independent of surface localization

Aisenberg WH, McCray BA, Sullivan JM et al. · 2022 · The Journal of biological chemistry

This lab study found one of the cell's natural brakes on TRPV4, small ubiquitin tags, and showed that the CMT2C change R269C carries fewer of them, apparently because it is overactive. Boosting the tags partly calmed the faulty channel in lab cells, but this has not been tested in animals with the disease or in people.

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Structure of human TRPV4 in complex with GTPase RhoA

Nadezhdin KD, Talyzina IA, Parthasarathy A et al. · 2023 · Nature communications

This study shows in near-atomic detail that the protein RhoA sits on the part of TRPV4 where many neuropathy-causing changes are found, which supports the idea that these changes upset a natural brake on the channel. It also shows where an experimental blocking drug binds, but this is basic science and a long way from a treatment.

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Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice

Sullivan JM, Bagnell AM, Alevy J et al. · 2024 · Science Translational Medicine

In young mice with a severe, early-fatal form of TRPV4 disease, the damage appeared to start in the lining of the spinal cord's blood vessels, which became leaky, rather than in the nerve cells themselves. A TRPV4-blocking drug, started after symptoms appeared, closed the leaks and rescued the mice. This has not been shown in people with CMT2C: no patients or human tissue were studied, the authors say the mice match only the severe end of the human range, and the drug given to the mice (GSK2193874) is not the compound named in a cited human trial (GSK2798745).

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Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy

Oonk AM, Ekker MS, Huygen PL et al. · 2014 · The Annals of otology, rhinology, and laryngology

In this one family with the R269H change, everyone with the mutation developed hearing loss from the inner ear or hearing nerve, usually noticed in mid-life and slowly worsening. How severe it was did not match how weak their muscles were.

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TRPV4 neuropathy-causing mutations localize to the convex face of the ankyrin repeat domain (reply in the Neurology correspondence “Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy”)

Sullivan JM, Landouré G, Gaudet R et al. · 2014 · Neurology

This letter is part of a scientific debate about the shape of the TRPV4 protein and where CMT2C mutations sit on it. It does not report anything new about symptoms or treatment.

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Phenotypic variability of TRPV4 related neuropathies

Evangelista T, Bansagi B, Pyle A et al. · 2015 · Neuromuscular disorders: NMD

This paper adds two more examples of how differently TRPV4 changes can show up, from weakness and skeletal features in early childhood to leg weakness starting around age 40. It also shows that some people with TRPV4 nerve disease have no voice or hearing problems.

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Channelopathies converge on TRPV4

Nilius B, Owsianik G · 2010 · Nature genetics

This piece marks the moment in 2010 when TRPV4 was linked to CMT2C. Its account of the gene discovery is more reliable than its symptom figures, some of which come from very few families or have no source.

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Essential Tremor in a Charcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation

Louis ED, Hernandez N, Ottman R et al. · 2014 · Case reports in neurology

In this one CMT2C family, tremor also appeared in relatives without the TRPV4 mutation, so the authors think it was a separate, common condition (essential tremor) rather than part of CMT2C. One family cannot show how often this applies to other people with CMT2C and tremor.

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Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant

Faye E, Modaff P, Pauli R et al. · 2019 · Molecular syndromology

This case shows that one person can have both CMT2C and a TRPV4 skeletal dysplasia, and that for her the nerve problems affected daily life more than the bone problems. It is one person's story, so it cannot say how common this overlap is.

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The remarkable phenotypic variability of the p.Arg269HiS variant in the TRPV4 gene

Jędrzejowska M, Dębek E, Kowalczyk B et al. · 2019 · Muscle & nerve

In these Polish families the same TRPV4 change, R269H, caused disease of very different severity, even between a mother and her daughters, and one adult needed breathing support at night. The paper shows that the same change can be called CMT2C or a form of spinal muscular atrophy.

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De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease

Lee AJ, Kanwal S, Awasthi M et al. · 2025 · Genes & genomics

A TRPV4 change can be present in only some of a person's cells (mosaicism) and still cause severe CMT2C, as in this one girl. The summary notes this matters for families because a mildly affected or apparently unaffected parent could be mosaic.

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Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2

Yoshioka R, Dyck PJ, Chance PF · 1996 · Neurology

This early study showed that CMT2C is not caused by the same gene region as CMT2A. It is part of the history of how CMT2C came to be recognized as its own condition.

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Long-Term Observations in an Affected Family with Neurogenic Scapuloperoneal Syndrome Caused by Mutation R269C in the TRPV4 Gene

Vill K, Kuhn M, Gläser D et al. · 2015 · Neuropediatrics

In this one family with TRPV4 R269C, the father stayed stable over two decades and his son, who was very ill as a newborn, improved and walked with braces by age 5. One family cannot show how others will do.

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A case of congenital spinal muscular atrophy with pain due to a mutation in TRPV4

Fleming J, Quan D · 2016 · Neuromuscular disorders: NMD

This single report describes a person with a TRPV4 change who had pain and a sense of reduced feeling as well as weakness. It also shows that a diagnosis in one family member does not always explain another relative's condition.

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Clinical and genetic heterogeneity in peroneal muscular atrophy associated with vocal cord weakness

McEntagart M, Dunstan M, Bell C et al. · 2002 · Journal of Neurology, Neurosurgery, and Psychiatry

This was one of the steps that narrowed down where the CMT2C gene could be, by showing it was not in one suspected region.

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Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy

Echaniz-Laguna A, Dubourg O, Carlier P et al. · 2014 · Neurology

In this French series, TRPV4 changes were found only in people whose neuropathy came with extra features such as vocal cord paralysis or skeletal problems, and in none of the 95 people with 'pure' CMT2. Many people with TRPV4 neuropathy had been given other labels, such as distal hereditary motor neuropathy.

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Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications

Berling E, Reyngoudt H, Le Guillou A et al. · 2026 · Neurology. Genetics

In this small French series, people with TRPV4-related SMA had very varied muscle MRI patterns, and 2 of 4 had a badly affected neck muscle not seen in anyone else. This might one day help doctors recognize TRPV4 disease on scans, but it rests on very few people and the authors say it needs checking in larger groups.

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Hip Dysplasia in Charcot-Marie-Tooth Disease: Insights From a Large Cohort of Children and Adolescents

Tan KA, Ryan MM, Kennedy RA et al. · 2025 · Journal of the peripheral nervous system: JPNS

In this Australian children's clinic, all 4 children with TRPV4-related CMT had hip dysplasia on X-ray and 2 needed hip surgery. This suggests hips can be a concern in childhood TRPV4 neuropathy, but with only 4 children involved, it cannot say how common hip dysplasia is.

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Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias

Güneş N, Alkaya DU, Kurugoğlu S et al. · 2025 · Pediatric radiology

This paper is mainly about TRPV4 bone and growth conditions rather than CMT2C. It shows that TRPV4 skeletal problems can change with age and vary within families, and it includes one child with congenital distal SMA who was walking normally by about 9 years.

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TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients

Cho TJ, Matsumoto K, Fano V et al. · 2012 · American journal of medical genetics. Part A

This paper describes three children who had both a TRPV4 bone condition and nerve involvement, which supports the idea that TRPV4 bone and nerve conditions belong to one spectrum. It suggests bone changes may go unnoticed in people known to have only TRPV4 neuropathy.

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TRPV4 mutations in children with congenital distal spinal muscular atrophy

Fiorillo C, Moro F, Brisca G et al. · 2012 · Neurogenetics

In this small group of children born with leg weakness from motor nerve damage, the two with TRPV4 changes were the ones who also had vocal cord or bone problems. One of the changes, R232C, has also been reported in people with CMT2C, which shows the same change can be given different diagnosis labels.

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The case of a highly trained TRPV4 related scapuloperoneal spinal muscular atrophy patient: a 5-year follow-up

Crisafulli O, Fortunati M, Quintiero V et al. · 2025 · Acta myologica: myopathies and cardiomyopathies: official journal of the Mediterranean Society of Myology

One young man with TRPV4-related scapuloperoneal SMA did regular, supervised strength and endurance training for about five years without reported harm. His measured strength was maintained or improved, and the authors put a dip in his fitness at the last test down to a two-month break in training. One person cannot show that exercise slows the condition, and his experience may not apply to others.

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Roles for TRPV4 in disease: A discussion of possible mechanisms

Hernández-Vega AM, García-Villegas R, Rosenbaum T · 2024 · Cell calcium

This review explains the main laboratory ideas about how TRPV4 changes may harm nerves, chiefly too much calcium entering cells and disturbed links with a protein called RhoA. Most of this comes from cells and mice, so it describes possible mechanisms rather than proven effects in people with CMT2C.

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Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth

Jang Y, Jung J, Kim H et al. · 2012 · The Journal of biological chemistry

This lab study suggests TRPV4 normally helps nerve fibers grow, which helps explain why the channel matters for nerves. It did not test the gene changes that cause CMT2C, so it says little directly about what happens in people with the condition.

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De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

Ragamin A, Gomes CC, Bindels-de Heus K et al. · 2022 · Journal of medical genetics

This paper describes two women with a rare TRPV4 change near the channel's pore. Like some people with CMT2C, they had nerve damage, vocal cord weakness and hearing loss, but they also had aggressive bone lesions in the jaw and skull. It widens the range of known TRPV4 conditions; the bone lesions were linked to this specific change and are not described here as part of typical CMT2C.

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Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

Velilla J, Marchetti MM, Toth-Petroczy A et al. · 2019 · Neurology. Genetics

This report shows that TRPV4 disease can, at least in one child, come from inheriting the same change from both parents, giving a severe form present from birth. Whether people with one copy of this particular change have any signs was not tested by examination.

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Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report

Lugo E, Graulau E, Ramos Cortes E et al. · 2023 · Cureus

This report describes one child with two copies of a TRPV4 change who had a motor-only condition present from birth, which is different from typical CMT2C. It cannot tell us whether people with one copy of this change are truly unaffected, because the parents' assessments are not described.

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Case Report: TRPV4 gene mutation causing neuronopathy, distal hereditary motor, type VIII

Wang F, Jin X, Zhu Y et al. · 2024 · Frontiers in pediatrics

This report adds one more example of a TRPV4 change looking very different in a parent and child: a child who cannot walk unaided and a father without apparent symptoms. It cannot tell us whether the father has subtle signs, because his examination is only partly reported.

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Muscle MRI in TRPV4-related congenital distal SMA

Astrea G, Brisca G, Fiorillo C et al. · 2012 · Neurology

In this very small study, the man with CMT2C had the same kind of leg muscle MRI pattern as two children with congenital distal SMA, mainly affecting the front of the lower leg, with less thigh involvement. It hints that the conditions sit on one spectrum, but three scans cannot prove a typical CMT2C pattern.

Full paperEvidence Read the full analysis

The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review

Robles-Espinoza K, Esparza-García E, González García JR et al. · 2025 · International journal of molecular sciences

This paper is about a severe skeletal TRPV4 condition, not CMT2C. It supports the idea that TRPV4 conditions overlap, but its own patients were not checked for nerve damage, so it adds little direct evidence about CMT2C.

Full paperEvidence Read the full analysis

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy

Thibodeau ML, Peters CH, Townsend KN et al. · 2017 · American journal of medical genetics. Part A

This family shows a rare pattern quite different from typical CMT2C: two children who inherited a different TRPV4 variant from each parent had a severe condition affecting nerves, hearing, eyes and development. The cell tests suggested these variants reduce channel activity, which the summary says adds weight to the idea that too little TRPV4 activity, as well as too much, may harm nerves.

Detailed summary onlyEvidence Read the full analysis

TRPV4-pathy, a novel channelopathy affecting diverse systems

Dai J, Cho TJ, Unger S et al. · 2010 · Journal of human genetics

This early review helped frame CMT2C as one of several conditions caused by changes in the same gene, TRPV4. Its explanations of why one gene can affect nerves in some people and bones in others are ideas, not tested findings.

Full paperEvidence Read the full analysis

TRPV4-mediated channelopathies

Verma P, Kumar A, Goswami C · 2010 · Channels (Austin, Tex.)

This early review collects what was known about TRPV4 mutations in 2010 and offers ideas about how ankyrin domain mutations might cause disease. Its models were guesses to be tested, not findings, so it says little directly about living with CMT2C.

Full paperEvidence Read the full analysis

Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype

Ürel-Demir G, Şimşek-Kiper PÖ, Öncel İ et al. · 2021 · European journal of paediatric neurology: EJPN: official journal of the European Paediatric Neurology Society

This Turkish series describes TRPV4 conditions as a spectrum from bone growth disorders to nerve and muscle disorders such as CMT2C, with a lot of overlap. The abstract does not give the details of the patients.

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TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature

Biasini F, Portaro S, Mazzeo A et al. · 2016 · Neuromuscular disorders: NMD

In this Italian family the same TRPV4 change, R269H, caused mild weakness in a father and a more severe condition from birth in his son. The abstract's claim that severity rises in later generations rests on this one pair.

Abstract onlyEvidence Read the full analysis

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Unger S, Lausch E, Stanzial F et al. · 2011 · American journal of medical genetics. Part A

In four very severe cases of a TRPV4 bone condition, the babies did not move before birth, which the authors think may mean their nerves were also affected. This supports the idea that TRPV4 bone and nerve conditions can overlap.

Abstract onlyEvidence Read the full analysis

Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin

Liu Y, Yan X, Chen Y et al. · 2020 · Journal of the neurological sciences

In this Chinese family, a new TRPV4 change was linked to leg weakness from birth, bone problems and scaly skin. It adds another feature to the wide range of TRPV4 conditions, though it comes from one family.

Abstract onlyEvidence Read the full analysis

TRPV4-associated skeletal dysplasias

Nishimura G, Lausch E, Savarirayan R et al. · 2012 · American journal of medical genetics. Part C, Seminars in medical genetics

This review describes how TRPV4 changes can cause bone growth conditions or nerve conditions, with a few people having both. It notes that most tested TRPV4 changes make the channel more active in the lab, but how this causes disease was still unclear.

Abstract onlyEvidence Read the full analysis

Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report

Uzman CY, Çankaya T, Güleryüz H et al. · 2023 · Skeletal radiology

This report describes a boy with a TRPV4 bone growth condition who also had joint contractures from birth. It adds to the wide range of conditions linked to TRPV4 but says nothing directly about CMT2C.

Abstract onlyEvidence Read the full analysis

TRPV4 acts as a mitochondrial Ca2+-importer and regulates mitochondrial temperature and metabolism

Kanta Acharya T, Kumar A, Kumar Majhi R et al. · 2022 · Mitochondrion

In lab-grown cells, TRPV4 was found in mitochondria, the cell's energy-makers, and affected how they work. This early lab work does not show what happens in the nerves of people with CMT2C.

Abstract onlyEvidence Read the full analysis

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan

Lin KP, Soong BW, Yang CC et al. · 2011 · PloS one

None of the 36 Taiwanese people with CMT2 in this study had a TRPV4 change, so CMT2C was not found in this group. One family in the study also shows that relatives who report no symptoms can still have mild signs when a neurologist examines them.

Full paperEvidence Read the full analysis

Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy

Fernández-Eulate G, Theuriet J, Record CJ et al. · 2023 · Neurology. Genetics

In this series of adults with motor-nerve SMA not caused by the usual gene, TRPV4 was one of the three most common causes. The TRPV4 patients typically had shoulder-blade and lower leg weakness starting in adult life, and often vocal cord problems. Only 4 TRPV4 patients were included, all with the motor form rather than CMT2C.

Full paperEvidence Read the full analysis

Charcot-Marie-Tooth disease: New insights from skin biopsy

Manganelli F, Nolano M, Pisciotta C et al. · 2015 · Neurology

In three people with CMT2C, fingertip skin biopsies showed loss of touch receptors and nerve endings, apparently more than in CMT1A, but three people is too few to be sure. Skin biopsy may one day help track nerve loss, but this study did not test that over time.

Full paperEvidence Read the full analysis

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

Drew AP, Zhu D, Kidambi A et al. · 2015 · Molecular genetics & genomic medicine

Exome sequencing found a known cause in 8% of families still undiagnosed after standard tests. The single TRPV4 change found was judged probably harmless, which illustrates that a rare TRPV4 variant on a genetic test report is not automatically the cause of someone's neuropathy.

Full paperEvidence Read the full analysis

Development and validation of the Charcot-Marie-Tooth Disease Infant Scale

Mandarakas MR, Menezes MP, Rose KJ et al. · 2018 · Brain: a journal of neurology

This study gives researchers a tested way to measure CMT in children under five, which could matter for future studies that include young children with CMT2C. It says almost nothing about CMT2C itself.

Full paperEvidence Read the full analysis

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia

Dong L, Ho KC, Tan Z et al. · 2026 · Clinical genetics

This study is about TRPV4 bone conditions rather than CMT2C, but it reports the R232C change, also seen in neuropathy, in a patient with a bone condition and no recorded neuropathy. Nerve tests were not reported, so it does not show whether that patient's nerves were truly unaffected.

Full paperEvidence Read the full analysis

The distal hereditary motor neuropathies

Rossor AM, Kalmar B, Greensmith L et al. · 2012 · Journal of neurology, neurosurgery, and psychiatry

This older review places TRPV4 among the genes behind inherited nerve conditions that mainly weaken the hands and feet. It notes that TRPV4 disease often involves the vocal cords and can vary a lot within families. It also shows that, when it was written, scientists were not yet sure exactly how TRPV4 changes damage nerves.

Full paperEvidence Read the full analysis

TRPV4: A trigger of pathological RhoA activation in neurological disease

Bagnell AM, Sumner CJ, McCray BA · 2022 · BioEssays: news and reviews in molecular, cellular and developmental biology

This article is mainly about brain and spinal cord injury, not CMT2C, and puts forward an idea rather than new results. It notes that a TRPV4-blocking drug was well tolerated in trials for other conditions, but it does not show that blocking TRPV4 helps any nerve disease in people.

Full paperEvidence Read the full analysis

TRPV4 interacts with mitochondrial proteins and acts as a mitochondrial structure-function regulator

Kumar A, Majhi RK, Acharya TK et al. · 2018 · bioRxiv

This unreviewed lab study suggests that normal TRPV4 may also sit in mitochondria, the cell's power stations. It did not test any CMT2C-causing changes, so it does not tell us whether mitochondria are involved in CMT2C.

Full paperEvidence Read the full analysis

Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series

Lerat J, Magdelaine C, Roux AF et al. · 2019 · Molecular genetics & genomic medicine

This study adds one person with a TRPV4 change whose hearing loss came from the hearing nerve (auditory neuropathy) and who also had weak vocal cords (vocal cord paresis). Because hearing loss was found from records and questionnaires, and the paper does not report hearing tests for everyone, it cannot tell us how common hearing loss is in TRPV4 neuropathy.

Full paperEvidence Read the full analysis

Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans

Soh MS, Cheng X, Vijayaraghavan T et al. · 2020 · PloS one

Worms missing their version of the TRPV4 gene moved less well as adults and had some muscle changes, but showed no changes in the motor nerve cells examined or in nerve-muscle signaling. Because these worms lack the gene rather than carrying a human CMT2C change, the study tells us little directly about CMT2C in people.

Full paperEvidence Read the full analysis

Lysosomal Regulation of Inter-mitochondrial Contact Fate and Motility in Charcot-Marie-Tooth Type 2

Wong YC, Peng W, Krainc D · 2019 · Developmental cell

In lab cells, the CMT2C-linked TRPV4 change R269H made mitochondria stick together longer and move less, similar to changes linked to other CMT2 types. This is an early, single lab observation and has not been shown in human nerves.

Full paperEvidence Read the full analysis

A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade

Gentil BJ, O'Ferrall E, Chalk C et al. · 2017 · Journal of neuropathology and experimental neurology

This paper is mainly about a different form of CMT (CMT4J, caused by the FIG4 gene). Its TRPV4 findings come from one patient's skin cells and from mouse nerve cells in a dish; they hint that TRPV4 may be involved in nerve damage beyond CMT2C but say little directly about people with CMT2C.

Full paperEvidence Read the full analysis

Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

Hines SL, Richter JE, Mohammad AN et al. · 2019 · Molecular genetics & genomic medicine

This family has a TRPV4 bone condition, not CMT2C, and no nerve tests are reported. It shows that the same gene can cause quite different conditions, but it tells us little directly about CMT2C.

Full paperEvidence Read the full analysis

Long-term follow-up of metatropic dysplasia caused by novel mutations in the TRPV4 gene: Case report and literature review

Liu Y, Dong Y, Xu J et al. · 2025 · Medicine

This report is mainly about a severe bone growth condition caused by a new TRPV4 change. Its suggestion of nerve involvement is not backed by nerve tests, so it says little about CMT2C.

Full paperEvidence Read the full analysis

The Zinc-Finger Domain Containing Protein ZC4H2 Interacts with TRPV4, Enhancing Channel Activity and Turnover at the Plasma Membrane

Vangeel L, Janssens A, Lemmens I et al. · 2020 · International journal of molecular sciences

This lab study adds a new piece to the picture of how TRPV4 is controlled. It did not look at CMT2C mutations or nerve cells, so it has no direct meaning yet for people with CMT2C.

Full paperEvidence Read the full analysis

Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2

Ajroud-Driss S, Deng HX, Siddique T · 2011 · Current neurology and neuroscience reports

This review places CMT2C among more than 10 known types of axonal CMT, each linked to a different gene. The abstract does not say what the review reports about CMT2C itself.

Abstract onlyEvidence Read the full analysis

Charcot-Marie-Tooth disease (CMT): distinctive phenotypic and genotypic features in CMT type 2

Gemignani F, Marbini A · 2001 · Journal of the neurological sciences

This older review lists CMT2C as a distinct type of axonal CMT marked by vocal cord weakness. The abstract gives no further detail about it.

Abstract onlyEvidence Read the full analysis

Respiratory muscle weakness in peripheral neuropathies

Burakgazi AZ, Höke A · 2010 · Journal of the peripheral nervous system: JPNS

This review lists CMT2C among the few CMT types linked to weakness of the diaphragm, the main breathing muscle. It notes that ordinary nerve tests often do not reflect how well someone is breathing.

Abstract onlyEvidence Read the full analysis

The genetics of spinal muscular atrophies

Wee CD, Kong L, Sumner CJ · 2010 · Current opinion in neurology

This review names TRPV4 as one of the genes newly linked to spinal muscular atrophy at the time. The treatment progress it describes was for a different form of SMA, not for TRPV4 disease.

Abstract onlyEvidence Read the full analysis

Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies

Drew AP, Blair IP, Nicholson GA · 2011 · Current molecular medicine

This review lists TRPV4 among the genes that cause inherited motor neuropathies, a group that overlaps with CMT2. The abstract does not describe TRPV4 disease in detail.

Abstract onlyEvidence Read the full analysis

Distal hereditary motor neuropathies

Tazir M, Nouioua S · 2024 · Revue neurologique

This review places TRPV4 among the few genes linked to inherited motor neuropathy with vocal cord weakness, and among genes shared between this group and CMT2. The abstract does not discuss CMT2C itself.

Abstract onlyEvidence Read the full analysis

Adult-onset spinal muscular atrophy: An update

Juntas Morales R, Pageot N, Taieb G et al. · 2017 · Revue neurologique

This review includes TRPV4 among the genes that can cause spinal muscular atrophy starting in adulthood. The treatments in trials that it mentions are for other forms, not for TRPV4 disease.

Abstract onlyEvidence Read the full analysis

[Experience in molecular diagnostic in hereditary neuropathies in a pediatric tertiary hospital]

Fernández-Ramos JA, López-Laso E, Camino-León R et al. · 2015 · Revista de neurologia

Among 36 children with CMT at one hospital, one had a TRPV4 change, with joint stiffness from birth and vocal cord paralysis; the child's mother had weakness of the shoulder and lower leg muscles. This shows TRPV4 disease can appear among children referred for CMT.

Abstract onlyEvidence Read the full analysis

Molecular basis of axonal dysfunction and traffic impairments in CMT

Gentil BJ, Cooper L · 2012 · Brain research bulletin

This review suggests that many different CMT2 genes, possibly including TRPV4, may harm nerves through problems with transport inside nerve fibers or with mitochondria. The abstract presents this as a possibility, not as something shown for TRPV4.

Abstract onlyEvidence Read the full analysis

Spectrum of Hereditary Neuropathies in Adult Patients From Serbia

Vukojevic M, Marjanovic A, Ivanovic V et al. · 2026 · Journal of the peripheral nervous system: JPNS

Reports final diagnoses in 340 adults referred for hereditary neuropathy testing in Serbia, with CMT1A the most common and no significant genetic variant found in 20.6%.

From the abstractMay report rare axonal types such as CMT2C

Multiparametric Quantitative MRI of Peripheral Nerves to Differentiate Demyelinating From Axonal Polyneuropathies

Fajardo JE, Truong VB, Xuan Y et al. · 2026 · Journal of magnetic resonance imaging: JMRI

Uses multiparametric quantitative MRI of peripheral nerves in people with CMT1, CMT2 or HNPP and healthy controls to tell demyelinating from axonal neuropathy and score severity.

From the abstractCMT2 imaging group may include CMT2C

Burden and social context of caregivers of children and adolescents with Charcot-Marie-Tooth disease

de Paula CS, Cardoso J, Marques Junior W et al. · 2026 · Arquivos de neuro-psiquiatria

Studies 58 children and adolescents with CMT and their main caregivers, mostly mothers, finding that caregivers of moderately impaired children may experience burden regardless of income or schooling.

From the abstractPediatric CMT cohort; may include CMT2C

Construct Validity and Reliability of the OMNI Scale in Children and Adolescents With Neuromuscular Diseases

Cardoso J, Tonoli CC, Buzzetti BP et al. · 2026 · Muscle & nerve

Tests whether the OMNI perceived exertion scale is valid and reliable during the 6-minute walk test in children and adolescents with CMT or myopathies, finding it practical and reliable.

From the abstractPediatric CMT measurement; may include CMT2C

Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework

Webb RF, McCurry H, Girod A et al. · 2026 · Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research

An expert panel rates the evidence linking nine common skeletal dysplasia genes, including TRPV4, to 26 skeletal disorders, finding 22 (84.6%) of these relationships definitive.

From the abstractRates the evidence for TRPV4 skeletal disorders

Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution

Alawneh I, Alemán A, Nigro E et al. · 2026 · Neurology. Genetics

Retrospectively reviews 61 children with genetically confirmed CMT at a Canadian hospital, finding foot deformities in 84% and scoliosis in 23%, so orthopedic problems are common from an early age.

From the abstractPediatric CMT subtypes; may include CMT2C

Microglial Lyn Kinase-TRPV4 axis mediates social deficits in a maternal immune activation model

Islam R, Zhang F, Choudhary HH et al. · 2026 · Journal of neuroinflammation

Shows in cell and mouse models that TRPV4 activation in microglia, held in check by Lyn kinase, contributes to autism-like behaviors after maternal immune activation, and that TRPV4 inhibition reduces them.

From the abstractTRPV4 biology and TRPV4 inhibitors

TRPV4 Channel in Neurological Disease: from Molecular Mechanisms to Therapeutic Potential

Zhang F, Mehta H, Choudhary HH et al. · 2025 · Molecular neurobiology

Reviews TRPV4's structure, expression and roles in neurological diseases, from molecular mechanisms to emerging treatments aimed at TRPV4-associated disorders.

From the abstractTRPV4 in neurological disease

Diffusion-Weighted Magnetic Resonance Imaging: A Diagnostic Tool for Auditory (Axonal) Neuropathy

Zanin J, Rance G · 2025 · European journal of neurology

Uses diffusion MRI in 52 children and adults to show reduced auditory nerve fiber density in auditory neuropathy, linking nerve structure with hearing thresholds.

From the abstractAuditory neuropathy imaging; may include CMT2C

Inherited Peripheral Neuropathies

Castoro R, Moss KR · 2025 · Neurologic clinics

Reviews the clinical features, diagnosis, supportive treatment and emerging research in inherited peripheral neuropathies, noting 20% to 50% of cases still lack a clear diagnosis.

From the abstractInherited neuropathy review; likely lists CMT2C

A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia

Bamaga AK, Alyazidi AS, Alali FK · 2025 · Brain sciences

Reviews inherited neuropathy types and emerging treatments such as gene therapy, small molecules and antisense oligonucleotides, and describes the situation in Saudi Arabia.

From the abstractInherited neuropathy review; may list CMT2C

Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study

Rance G, Tomlin D, Yiu EM et al. · 2024 · Journal of clinical medicine

Tracks hearing over 3 years in a child with CMT2C and progressive auditory neuropathy, finding that a remote-microphone device restored speech perception in noise to normal levels.

From the abstractChild with CMT2C and auditory neuropathy

TRPV4 activation by core body temperature has multimodal functions in the central nervous system

Shibasaki K · 2024 · The journal of physiological sciences: JPS

Reviews how TRPV4, kept active by normal brain temperature, increases nerve cell firing and supports brain function, and how its dysfunction during overheating may worsen brain diseases.

From the abstractTRPV4 biology in the brain

Clinical Outcome Assessments and Biomarkers in Charcot-Marie-Tooth Disease

McCray BA, Fridman V · 2024 · Neurology

Reviews the development of clinical outcome measures and biomarkers for CMT trials, noting that muscle MRI fat fraction is the most responsive biomarker so far.

From the abstractCMT trial outcome measures; may mention CMT2C

Charcot-Marie-Tooth disease in children

Saylam E, Ramani PK, Duvuru R et al. · 2024 · Annals of the Child Neurology Society

Reviews the clinical features, subtypes, genetics, disease mechanisms, diagnosis and management of Charcot-Marie-Tooth disease in children.

From the abstractPediatric CMT review; likely lists CMT2C

Noninvasive ventilation and laser-assisted unilateral posterior cordotomy as novel multidisciplinary approaches for Charcot-Marie-Tooth disease 4B vocal cord paralysis: a case report

Tabatabaii SA, Kianparsa J, Zavareh MHG et al. · 2024 · Journal of medical case reports

Reports a 6-year-old Iranian girl with CMT type 4B and vocal cord paralysis, treated first with non-invasive ventilation and later with laser posterior cordotomy.

From the abstractVocal cord paralysis in CMT; may cite CMT2C

Effects of intensive rehabilitation on functioning in patients with mild and moderate Charcot-Marie-Tooth disease: a real-practice retrospective study

Ferraro F, Calafiore D, Curci C et al. · 2024 · Neurological sciences: official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Retrospectively assesses a 3-week intensive rehabilitation program in 37 people with mild to moderate CMT, measuring strength, pain, fatigue, balance and walking before, after and 12 months later.

From the abstractCMT rehabilitation cohort including axonal forms

Recent advances on the structure and the function relationships of the TRPV4 ion channel

Sánchez-Hernández R, Benítez-Angeles M, Hernández-Vega AM et al. · 2024 · Channels (Austin, Tex.)

Reviews recently solved TRPV4 channel structures from frog, mouse and human, comparing conserved features and differences and highlighting binding sites for regulating molecules.

From the abstractTRPV4 structure and disease-linked changes

Ion Channel Genes in Painful Neuropathies

Ślęczkowska M, Misra K, Santoro S et al. · 2023 · Biomedicines

Reviews ion channels beyond sodium channels, including TRP, potassium, HCN, anoctamin, acid-sensing and calcium channels, as contributors to painful neuropathy and possible drug targets.

From the abstractTRP channels in neuropathic pain; may cite TRPV4

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases

Zambon AA, Pini V, Bosco L et al. · 2023 · Brain: a journal of neurology

Reviews childhood-onset hereditary motor neuropathies, their overlap with axonal CMT2, lower-limb SMA and related conditions, and newly found genes, to guide diagnosis and genetic testing.

From the abstractOverlap of motor neuropathy with CMT2; may cite TRPV4

Pathophysiological Roles of the TRPV4 Channel in the Heart

Chaigne S, Barbeau S, Ducret T et al. · 2023 · Cells

Reviews how the TRPV4 channel affects heart muscle, blood vessel and fibroblast cells, and its roles in heart diseases such as fibrosis, heart failure and arrhythmia.

From the abstractTRPV4 biology in the heart

Mutational screening of GDAP1 in dysphonia associated with Charcot-Marie-Tooth disease: clinical insights and phenotypic effects

Manzoor U, Ali A, Ali SL et al. · 2023 · Journal, genetic engineering & biotechnology

Describes three affected children in one family with recessive axonal CMT2 caused by the GDAP1 variant p.Pro419Leu; they had voice and speech difficulties alongside limb weakness.

From the abstractVocal cord involvement in CMT; may cite CMT2C

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies

Ceylan GG, Habiloğlu E, Çavdarlı B et al. · 2023 · Revista da Associacao Medica Brasileira (1992)

Retrospectively reviews genetic testing in 64 people with suspected CMT, using PMP22 testing, targeted gene panels and, for five unsolved cases, exome sequencing.

From the abstractCMT gene panel; may include TRPV4

Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease

Donlevy GA, Cornett KMD, Garnett SP et al. · 2023 · Neurology

Follows 242 children and young people aged 3 to 20 with CMT over 2 years, finding that being underweight or obese was linked with greater disability.

From the abstractPediatric CMT cohort; may include CMT2C

The role of TRPV4 channels in cutaneous epithelia

Moore C · 2022 · Current topics in membranes

Reviews TRPV4's roles in skin cells, including temperature sensing, osmo-sensation, hair growth, barrier function, pain and itch, and its potential as a drug target.

From the abstractTRPV4 biology in skin

TRPV4: En RhoA To a Cure?

Lu Q, Chen YH · 2022 · BioEssays: news and reviews in molecular, cellular and developmental biology

A short commentary on the hypothesis that TRPV4 neuropathy mutations disrupt the channel's interaction with the signaling protein RhoA, activating RhoA and damaging the internal scaffold of nerve fibers. It notes that blocking RhoA signaling restored nerve fiber length in cells and in a fly model, independently of the channel's ion flow, and that inhibiting TRPV4 and RhoA together is proposed as a possible treatment route.

From the full paperDiscusses a possible treatment approach for TRPV4 neuropathy

Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia

Lv S, Zhao J, Liu L et al. · 2022 · Frontiers in genetics

Analyzes clinical, X-ray and genetic findings in 11 people from seven Chinese families with spondylo-epi-metaphyseal dysplasia, including two families with TRPV4 variants and varied severity.

From the abstractSkeletal TRPV4 disorder

TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel

Toft-Bertelsen TL, MacAulay N · 2021 · Cells

Reviews the TRPV4 channel's structure, activators, protein partners and modifications, and its roles in health and in diseases caused by absent or abnormal channel function.

From the abstractTRPV4 review covering inherited TRPV4 diseases

Axonal Charcot-Marie-Tooth Disease: from Common Pathogenic Mechanisms to Emerging Treatment Opportunities

McCray BA, Scherer SS · 2021 · Neurotherapeutics: the journal of the American Society for Experimental NeuroTherapeutics

Reviews shared disease mechanisms in axonal CMT (CMT2), such as faulty axonal transport and mitochondrial dynamics, and the emerging treatments these insights suggest.

From the abstractCMT2 review; likely includes CMT2C

Transient Receptor Potential Vanilloid in the Brain Gliovascular Unit: Prospective Targets in Therapy

Luo H, Declèves X, Cisternino S · 2021 · Pharmaceutics

Reviews how heat-sensitive TRPV channels, especially TRPV2 and TRPV4, help regulate the blood-brain barrier and nearby cells, and their potential as targets for treating brain disease.

From the abstractTRPV4 in the blood-brain barrier

Pathological evidence of demyelination in the recurrent laryngeal, phrenic, and oculomotor nerves in Charcot-Marie-Tooth disease 4F

Maeda K, Yamamoto Y, Ohuchi M et al. · 2021 · eNeurologicalSci

Describes nerve findings after death in a 72-year-old woman with adult-onset CMT4F, showing demyelination in nerves serving the voice box, breathing and eye movement.

From the abstractVoice and breathing nerves in CMT; may cite CMT2C

[Advances in studies on genetics of syndromes combining sensorineural hearing loss with scoliosis]

Wu K, Li Z, Zhang Q · 2021 · Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery

Reviews the clinical features and genetics of syndromes that combine sensorineural hearing loss with scoliosis, including some hereditary motor and sensory neuropathies.

From the abstractInherited neuropathy with hearing loss and scoliosis, possibly CMT2C

The prevalence of hereditary neuromuscular disorders in Northern Norway

Müller KI, Ghelue MV, Lund I et al. · 2021 · Brain and behavior

Finds 542 people with hereditary neuromuscular disorders in Northern Norway, a prevalence of 111.9 per 100,000, with CMT prevalence higher than in most European studies.

From the abstractRegional CMT counts; may include CMT2C

TRPV4: A Physio and Pathophysiologically Significant Ion Channel

Rosenbaum T, Benítez-Angeles M, Sánchez-Hernández R et al. · 2020 · International journal of molecular sciences

Reviews the many normal and disease-related roles of the TRPV4 channel and evidence from animal models and human trials supporting it as a drug target.

From the abstractTRPV4 review; likely notes TRPV4 neuropathy

Role of Transient Receptor Potential Vanilloid 4 Channel in Skin Physiology and Pathology

Boudaka A, Al-Yazeedi M, Al-Lawati I · 2020 · Sultan Qaboos University medical journal

Reviews how the TRPV4 channel works in skin cells and how too much or too little activity may contribute to itch, pain, inflammation, barrier problems and skin cancer.

From the abstractTRPV4 review; may mention TRPV4 neuropathy

Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany

Rudnik-Schöneborn S, Thiele S, Walter MC et al. · 2020 · European journal of neurology

Studies 54 German women with CMT and their 98 pregnancies, finding that obstetric complications did not differ from a German reference population, though about a third reported CMT worsening.

From the abstractCMT pregnancy cohort; may include rarer types

The role of TRPV4 channels in ocular function and pathologies

Guarino BD, Paruchuri S, Thodeti CK · 2020 · Experimental eye research

Reviews the TRPV4 channel's structure, activation and mutations, and its roles in eye tissues and eye diseases such as glaucoma and diabetic retinopathy.

From the abstractTRPV4 review covering its mutations

Prevalence of Charcot-Marie-Tooth disease across the lifespan: a population-based epidemiological study

Theadom A, Roxburgh R, MacAulay E et al. · 2019 · BMJ open

Estimates CMT prevalence in the Auckland region of New Zealand at 15.7 per 100,000 people, finding that some people with CMT were identified only through community sources.

From the abstractPrevalence by subtype; may include CMT2C

Trafficking of Stretch-Regulated TRPV2 and TRPV4 Channels Inferred Through Interactomics

Doñate-Macián P, Enrich-Bengoa J, Dégano IR et al. · 2019 · Biomolecules

Reviews proteins that interact with the stretch-sensing TRPV2 and TRPV4 channels to infer how the channels are transported to the cell surface and within cells.

From the abstractTRPV4 cell biology

Charcot-Marie-Tooth: From Molecules to Therapy

Morena J, Gupta A, Hoyle JC · 2019 · International journal of molecular sciences

Reviews Charcot-Marie-Tooth disease genetics, diagnosis by next-generation sequencing and therapy research, focusing on the commonest genes and touching on rarer subtypes.

From the abstractTherapy research for less common subtypes, possibly CMT2C

Cryo-EM and X-ray structures of TRPV4 reveal insight into ion permeation and gating mechanisms

Deng Z, Paknejad N, Maksaev G et al. · 2018 · Nature structural & molecular biology

Presents a 3.8-Å cryo-EM structure of frog TRPV4 with X-ray data, explaining how ions pass and how the channel may open, with insight into disease mutations.

From the abstractTRPV4 structure linked to disease mutations

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

Gomes CC, Gayden T, Bajic A et al. · 2018 · Nature communications

Finds gain-of-function mutations in KRAS, FGFR1 or TRPV4 in 72% of 58 jaw giant cell lesions, with the TRPV4 mutants making the channel overactive in cells.

From the abstractTRPV4 gain of function in a jaw tumor

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Bacquet J, Stojkovic T, Boyer A et al. · 2018 · BMJ open

Compares an 81-gene sequencing panel with earlier one-gene-at-a-time testing in 123 people with inherited neuropathies, solving about 40% of cases, roughly twice the earlier yield.

From the abstractGene panel likely includes TRPV4

Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

Zambon AA, Natali Sora MG, Cantarella G et al. · 2017 · Neuromuscular disorders: NMD

Reports a Pakistani girl with recessive demyelinating CMT4B1, caused by a new MTMR2 mutation, who had vocal cord palsy by 18 months, and reviews the literature.

From the abstractVocal cord palsy in CMT; may cite CMT2C

Detection of TRPV4 channel current-like activity in Fawn Hooded hypertensive (FHH) rat cerebral arterial muscle cells

Gebremedhin D, Zhang DX, Weihrauch D et al. · 2017 · PloS one

Detects TRPV4 channels and TRPV4-like currents in artery muscle cells from a hypertensive rat strain, and links their activity to potassium channel activity.

From the abstractStudies the TRPV4 channel in blood vessels

Why individual thermo sensation and pain perception varies? Clue of disruptive mutations in TRPVs from 2504 human genome data

Ghosh A, Ghosh A, Kaur N et al. · 2016 · Channels (Austin, Tex.)

Suggests that the heat-sensitive TRPV1 to TRPV4 channels carry many possibly harmful variants across 2504 human genomes, which may explain individual differences in temperature and pain perception.

From the abstractTRPV4 genetic variation in the population

Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head

Mah W, Sonkusare SK, Wang T et al. · 2016 · Journal of medical genetics

Finds a TRPV4 gene change in four siblings with inherited osteonecrosis of the femoral head and shows in cells that it makes the channel overactive by keeping it open longer.

From the abstractTRPV4 gain of function in bone disease

Recent advances in the genetic neuropathies

Rossor AM, Tomaselli PJ, Reilly MM · 2016 · Current opinion in neurology

Reviews recent advances in CMT genetics, disease mechanisms, natural history studies and muscle MRI biomarkers that are paving the way for rational treatments.

From the abstractCMT review; may list CMT2C

Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach

McCorquodale D, Pucillo EM, Johnson NE · 2016 · Journal of multidisciplinary healthcare

Reviews multidisciplinary long-term care for Charcot-Marie-Tooth disease, including patient registries, standard clinical measures and patient-reported outcomes to preserve function and quality of life.

From the abstractCMT management; may list CMT2C among subtypes

The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management

Hoyle JC, Isfort MC, Roggenbuck J et al. · 2015 · The application of clinical genetics

Reviews Charcot-Marie-Tooth genetics and testing strategies, arguing that next-generation sequencing multigene panels are overtaking targeted gene tests as the first-line approach.

From the abstractCMT genetics review; likely lists CMT2C

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Fridman V, Bundy B, Reilly MM et al. · 2015 · Journal of neurology, neurosurgery, and psychiatry

Analyzes 1652 patients at 13 Inherited Neuropathy Consortium centers, finding 60.4% had a genetic diagnosis and five common subtypes accounted for 89.2% of confirmed mutations.

From the abstractLikely counts CMT2C among rare subtypes

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

Antoniadi T, Buxton C, Dennis G et al. · 2015 · BMC medical genetics

Tests 448 people with suspected inherited neuropathy using a 56-gene sequencing panel, reaching a genetic diagnosis in 137 (31%) and revealing unexpected links between genes and symptoms.

From the abstractGene panel likely includes TRPV4

Physiological and pathological functions of mechanosensitive ion channels

Gu Y, Gu C · 2014 · Molecular neurobiology

Reviews ion channels that sense mechanical force, focusing on TRPV4, the Kv1.1 potassium channel and Piezo channels, their structure, functions and possible roles in disease.

From the abstractReviews TRPV4 mechanosensing and related diseases

The puzzle of TRPV4 channelopathies

Nilius B, Voets T · 2013 · EMBO reports

Reviews the varied diseases caused by TRPV4 mutations, which affect the skeleton and peripheral nerves, and discusses why mutations in the same channel region cause different diseases.

From the abstractReviews TRPV4 nerve and skeletal disorders

4α-phorbol 12,13-didecanoate activates cultured mouse dorsal root ganglia neurons independently of TRPV4

Alexander R, Kerby A, Aubdool AA et al. · 2013 · British journal of pharmacology

Finds that 4α-PDD, a chemical thought to activate TRPV4 selectively, excites mouse sensory neurons even without TRPV4, while TRPV4 appears needed for NGF-induced pressure pain.

From the abstractStudies the TRPV4 channel in pain

Inherited neuropathies: clinical overview and update

Klein CJ, Duan X, Shy ME · 2013 · Muscle & nerve

A clinical update on inherited neuropathies covering their types, differential diagnosis, distinguishing features and a framework for nerve and genetic testing, noting treatment remains mostly supportive.

From the abstractInherited neuropathy overview; likely lists CMT2C

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation

Kang SS, Shin SH, Auh CK et al. · 2012 · Experimental & molecular medicine

Reviews how a permanently active TRPV4 channel mutation may disrupt bone growth in TRPV4 skeletal dysplasias such as brachyolmia and metatropic dysplasia.

From the abstractSkeletal TRPV4 disorder

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

Azzedine H, Senderek J, Rivolta C et al. · 2012 · Molecular syndromology

Reviews the genetics of Charcot-Marie-Tooth disease and how new high-throughput sequencing methods are changing gene discovery and diagnosis.

From the abstractCMT genetics review; likely lists CMT2C

Inherited neuropathies

Li J · 2012 · Seminars in neurology

Reviews the clinical and pathological features of Charcot-Marie-Tooth disease and how nerve tests and genetic testing guide diagnosis and symptom management, with illustrative cases.

From the abstractCMT review; likely lists CMT2C

Mutations in the TRPV4 gene are not associated with sporadic progressive muscular atrophy

Vlam L, Schelhaas HJ, van Blitterswijk M et al. · 2012 · Archives of neurology

Screens the TRPV4 gene in 264 Dutch patients with sporadic progressive muscular atrophy and 768 healthy controls. None of the known neuropathy mutations were found; the only new variant (V750I) was predicted benign and also appeared in 2 controls (0.8% of patients versus 0.3% of controls, p = 0.27).

From the full paperFound no link between TRPV4 mutations and sporadic progressive muscular atrophy

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

Andreucci E, Aftimos S, Alcausin M et al. · 2011 · Orphanet journal of rare diseases

Analyzes clinical, X-ray and TRPV4 gene findings in 26 people from 21 families with three related skeletal dysplasias, suggesting they form one continuum of severity.

From the abstractSkeletal TRPV4 disorder

Update on Charcot-Marie-Tooth disease

Patzkó A, Shy ME · 2011 · Current neurology and neuroscience reports

Reviews Charcot-Marie-Tooth disease, covering its causes in more than 40 genes, diagnostic approaches and emerging treatment strategies, noting no effective medicines yet exist.

From the abstractCMT review; likely lists CMT2C

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Zimoń M, Baets J, Auer-Grumbach M et al. · 2010 · Brain: a journal of neurology

Sequences the TRPV4 gene in 145 people with hereditary neuropathy, finding five mutations in eight families with mostly motor axonal neuropathy and striking variability within and between families.

From the abstractStudies TRPV4 neuropathy, including HMSN 2C (CMT2C)

Inhibition of the cation channel TRPV4 improves bladder function in mice and rats with cyclophosphamide-induced cystitis

Everaerts W, Zhen X, Ghosh D et al. · 2010 · Proceedings of the National Academy of Sciences of the United States of America

Shows that mice lacking TRPV4 develop much less cystitis-related bladder dysfunction, and that a new TRPV4-blocking drug, HC-067047, improves bladder function in mice and rats.

From the abstractStudies a TRPV4-blocking drug

Pes cavus and hereditary neuropathies: when a relationship should be suspected

Piazza S, Ricci G, Caldarazzo Ienco E et al. · 2010 · Journal of orthopaedics and traumatology: official journal of the Italian Society of Orthopaedics and Traumatology

Reviews hereditary neuropathies in which a high-arched foot (pes cavus) is an early sign, and when doctors should suspect an inherited neuropathy in someone with foot deformities.

From the abstractLists neuropathies with pes cavus, likely including CMT2C

Diagnosis of Charcot-Marie-Tooth disease

Banchs I, Casasnovas C, Casasnovas C et al. · 2009 · Journal of biomedicine & biotechnology

Reviews how Charcot-Marie-Tooth disease is classified and diagnosed, focusing on genetic testing strategies guided by clinical and nerve conduction findings.

From the abstractCMT classification; likely lists CMT2C

Charcot-Marie-Tooth disease

Szigeti K, Lupski JR · 2009 · European journal of human genetics: EJHG

Reviews Charcot-Marie-Tooth disease genetics, including the many genes involved, types of mutation, age-dependent penetrance, variable severity and evidence-based genetic testing.

From the abstractCMT genetics review; likely lists CMT2C

Classification and diagnosis of the inherited neuropathies

Reilly MM · 2009 · Annals of Indian Academy of Neurology

Based on the title only, a review of how inherited neuropathies are classified and diagnosed; no abstract was available.

From the titleLikely lists CMT2C in a classification

Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

Bird TD · 1993 · University of Washington, Seattle (WA)

A retired, archived clinical chapter describing axonal Charcot-Marie-Tooth type 2 (CMT2), its genetic subtypes, diagnosis with nerve tests and genetics, and team-based management such as orthoses.

From the abstractCovers CMT2 subtypes, likely including CMT2C

Charcot-Marie-Tooth Hereditary Neuropathy Overview

Bird TD · 1993 · University of Washington, Seattle (WA)

An overview of Charcot-Marie-Tooth hereditary neuropathy covering its clinical features, causes, how to find the cause in an affected person, management and genetic counseling for families.

From the abstractCMT overview; likely lists CMT2C among causes

Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells

Oates EC, Reddel S, Rodriguez ML et al. · 2012 · Brain: a journal of neurology

This family did not have a TRPV4 change, so the findings concern a different, unidentified cause of congenital SMA rather than CMT2C. It is mainly a reminder that TRPV4 is only one of several genetic causes of similar symptoms.

Full paper (scan)Evidence Read the full analysis

Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A

Saito M, Hayashi Y, Suzuki T et al. · 1997 · Neurology

This paper is about a different type of CMT, CMT2A. It mentions CMT2C only as a type whose gene region had not yet been found.

Abstract onlyEvidence Read the full analysis

Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center

Gentile L, Russo M, Fabrizi GM et al. · 2020 · Neurological sciences: official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

At this large Italian center, TRPV4 changes were found in only 2 of 566 people with CMT, so they were rare there. The figure reflects one center's patients and testing.

Abstract onlyEvidence Read the full analysis

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies

Dohrn MF, Glöckle N, Mulahasanovic L et al. · 2017 · Journal of neurochemistry

In a large group of people tested with a gene panel for inherited neuropathy, TRPV4 changes were found but were uncommon. The abstract gives no detail about those patients.

Abstract onlyEvidence Read the full analysis

Lipid alterations in hereditary peripheral neuropathies: common mechanisms in disease heterogeneity?

Kuipers K, Vanherle S, Poelmans K et al. · 2026 · Molecular neurodegeneration

Reviews evidence that disturbed lipids, such as cholesterol and sphingolipids, may be a common mechanism across hereditary peripheral neuropathies and could point to new treatments.

From the abstractNeuropathy mechanisms; may list CMT2C

Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint

Seneor D, Barile J, Mendes P et al. · 2026 · Genes

Based on the title only, a comprehensive review of arthrogryposis multiplex congenita from a neuromuscular standpoint; no abstract was available.

From the titleNeuromuscular causes of arthrogryposis; may include TRPV4

Ion Channels as Therapeutic Targets in Overactive Bladder: A Narrative Review of Mechanisms, Translational Evidence, and Current Gaps

Demirçi B, Helvacı G, Barut EN et al. · 2026 · Lower urinary tract symptoms

A narrative review of ion channels, including TRP and PIEZO channels, as drug targets in overactive bladder, covering the evidence, barriers to translation and promising future targets.

From the abstractTRP channels in the bladder; may mention TRPV4

Research Trends and Insights of Charcot-Marie-Tooth Disease (CMT): A Visualization Analysis (2000-2025)

Cao L, Liu Y, Li J et al. · 2026 · Health science reports

A bibliometric analysis of 3115 CMT publications from 2000 to 2025, mapping leading countries, institutions and research hotspots such as gene discovery, mechanisms and targeted therapies.

From the abstractCMT literature map; may mention CMT2C

Insulin-mediated modulation of ion channels in peripheral sensory neurons: Potential implications for autonomic regulation

Fukazawa A, Hori A, Smith SA et al. · 2026 · Autonomic neuroscience: basic & clinical

Reviews how insulin alters the sensitivity of ion channels, such as TRP channels and ASICs, in sensory neurons, with implications for diabetic neuropathy and exercise blood pressure reflexes.

From the abstractTRP channels in sensory neurons; may mention TRPV4

Mitochondrial activity tunes nociceptor resilience to excitotoxicity

Yuan L, Chandel NS, Julius D · 2025 · Cell

Uses a genome-wide CRISPRi screen to show that lower mitochondrial electron transport chain activity protects pain-sensing neurons from TRPV1-triggered calcium overload and oxidative damage.

From the abstractTRP channel calcium toxicity; may cite TRPV4 disease

Optogenetic and Endogenous Modulation of Ca²⁺ Signaling in Schwann Cells: Implications for Autocrine and Paracrine Neurotrophic Regulation

Numata T, Tsutsumi M, Sato-Numata K · 2025 · International journal of molecular sciences

Reviews how calcium entry into Schwann cells, triggered by light-controlled channels or natural channels such as TRP channels, releases factors that support nerve repair and remyelination.

From the abstractTRP channels in Schwann cells; may cite TRPV4

Mechanotransduction in Development: A Focus on Angiogenesis

Alibrandi S, Rinaldi C, Vinci SL et al. · 2025 · Biology

Reviews how cells sense mechanical forces during development, focusing on mechanosensitive TRP and PIEZO channels in blood vessel formation, especially in the brain.

From the abstractTRP mechanosensors; may mention TRPV4

Recent advances in the pharmacology of voltage-gated ion channels

Lopez-Mateos D, Harris BJ, Hernández-González A et al. · 2025 · Pharmacological reviews

Reviews recent drug development for voltage-gated sodium, calcium and potassium channels, including clinical-stage compounds, gene-based therapies and the growing use of protein structures and AI.

From the abstractLink to CMT2C not clear from the abstract

Physiological functions and pharmacological targeting of transient receptor potential channels

Chubanov V, Grimm C, Hill K et al. · 2025 · Pharmacological reviews

Reviews the wide physiological roles of TRP channels, the more than 20 inherited human diseases linked to them and the drugs being developed to target them.

From the abstractTRP channel inherited diseases, likely including CMT2C

Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients

Nishio H, Niba ETE, Saito T et al. · 2024 · Genes

A non-systematic review of the features of 5q and non-5q spinal muscular atrophies in children, noting that approved drugs exist only for 5q-SMA.

From the abstractNon-5q SMA review; may include TRPV4 forms

Novel strategies targeting mitochondria-lysosome contact sites for the treatment of neurological diseases

Xie Y, Sun W, Han A et al. · 2024 · Frontiers in molecular neuroscience

Reviews how contact sites between mitochondria and lysosomes work and how faults in them contribute to neurological diseases, including Parkinson's disease and CMT, and what treatments might help.

From the abstractCMT among diseases reviewed; may cite CMT2C

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia

Qiu Y, Xiong Y, Wang L et al. · 2024 · Annals of clinical and translational neurology

Reports a Chinese patient with recessive hereditary spastic paraplegia caused by a new homozygous COQ7 variant, extending COQ7 disorders beyond distal hereditary motor neuropathy.

From the abstractLink to CMT2C not clear from the abstract

Clinical Characteristics and Whole Exome Sequencing Analysis in Serbian Cases of Clubfoot Deformity-Single Center Study

Milanovic F, Ducic S, Jankovic M et al. · 2024 · Children (Basel, Switzerland)

Studies 50 Serbian children with clubfoot, using whole exome sequencing to find genetic causes in seven and comparing features between those with and without mutations.

From the abstractGenetic causes of clubfoot, possibly TRPV4

Clustering rare diseases within an ontology-enriched knowledge graph

Sanjak J, Binder J, Yadaw AS et al. · 2023 · Journal of the American Medical Informatics Association: JAMIA

Builds a knowledge graph of 3242 rare diseases and clusters them by shared genes, phenotypes and pathways to help find drugs that could be repurposed.

From the abstractLink to CMT2C not clear from the abstract

TRP channels: Role in neurodegenerative diseases and therapeutic targets

Rather MA, Khan A, Wang L et al. · 2023 · Heliyon

Reviews the roles of TRP channels in calcium imbalance and neurodegenerative diseases such as Alzheimer's, Parkinson's, Huntington's and ALS, and their potential as therapy targets.

From the abstractTRP channels in nerve disease; may cite TRPV4 neuropathy

Targeting TRP channels: recent advances in structure, ligand binding, and molecular mechanisms

Huang J, Korsunsky A, Yazdani M et al. · 2023 · Frontiers in molecular neuroscience

A short review of recent progress on TRP channel structures, possible drug binding sites and how the channels are activated and regulated, aimed at therapy design.

From the abstractTRP drug targeting; may cite TRPV4 disease

Role of tubulin post-translational modifications in peripheral neuropathy

Pero ME, Chowdhury F, Bartolini F · 2023 · Experimental neurology

Reviews evidence that chemical modifications of tubulin, a key structural protein in nerve fibers, contribute to toxic and inherited peripheral neuropathies.

From the abstractInherited neuropathy mechanisms; may cite CMT2C

Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons

Wong YC, Jayaraj ND, Belton TB et al. · 2023 · Proceedings of the National Academy of Sciences of the United States of America

Shows that the CMT2B-linked Rab7 mutation prolongs contacts between mitochondria and lysosomes in sensory nerve fibers, in cultured neurons and a knock-in mouse with sensory neuropathy.

From the abstractCMT2 subtype mechanism; may cite CMT2C

The Concise Guide to PHARMACOLOGY 2023/24: Ion channels

Alexander SPH, Mathie AA, Peters JA et al. · 2023 · British journal of pharmacology

A reference guide summarizing key properties and the best pharmacological tools for ion channel drug targets, part of the 2023/24 Concise Guide to Pharmacology.

From the abstractLikely includes a TRPV4 entry

Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform

Liu Y, Mao L, Huang H et al. · 2023 · Human genome variation

Designs a capture chip covering 3043 genes for 4013 single-gene diseases plus 148 chromosomal abnormalities, and tests it with BGISEQ-500 sequencing in 63 patients.

From the abstractMay report a TRPV4 variant among findings

Dysregulation of organelle membrane contact sites in neurological diseases

Kim S, Coukos R, Gao F et al. · 2022 · Neuron

Reviews how contacts between organelles inside nerve cells are regulated and how their disruption contributes to neurological diseases.

From the abstractLink to CMT2C not clear from the abstract

Clinical and Genetic Survey for Charcot-Marie-Tooth Neuropathy Based on the Findings in Turkey, a Country with a High Rate of Consanguineous Marriages

Candayan A, Parman Y, Battaloğlu E · 2022 · Balkan medical journal

Reviews the clinical and genetic features of CMT in Turkey, where consanguineous marriage is common, and suggests which genes to test in families with likely recessive inheritance.

From the abstractCMT genetics survey; may list CMT2C

Recognising the potential of large animals for modelling neuromuscular junction physiology and disease

Cahalan SD, Boehm I, Jones RA et al. · 2022 · Journal of anatomy

Argues that large animal models may reflect human neuromuscular junction physiology and length-dependent nerve diseases better than rodents do.

From the abstractLength-dependent neuropathy models; may cite CMT2C

Ligand-Binding Sites in Vanilloid-Subtype TRP Channels

Yelshanskaya MV, Sobolevsky AI · 2022 · Frontiers in pharmacology

Classifies the small-molecule binding sites found in structures of TRPV1 to TRPV6 channels and how ligands act at them, to guide new drug design.

From the abstractTRPV drug binding sites, including TRPV4

Force From Filaments: The Role of the Cytoskeleton and Extracellular Matrix in the Gating of Mechanosensitive Channels

Chuang YC, Chen CC · 2022 · Frontiers in cell and developmental biology

Reviews how the cytoskeleton and surrounding matrix help open mechanically sensitive ion channels such as PIEZO2, acid-sensing channels and NompC, and describes techniques for studying them.

From the abstractMechanosensitive channels; may mention TRPV4

Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy

Gu Y, Guerra F, Hu M et al. · 2022 · Communications biology

Shows that the CMT2B-linked Rab7 V162M mutation fragments mitochondria in patient and mouse cells and sensory neurons, and that blocking Drp1 reverses these defects.

From the abstractCMT2 subtype mechanism; may cite CMT2C

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Megarbane A, Bizzari S, Deepthi A et al. · 2022 · Journal of neuromuscular diseases

Reviews 20 years of neuromuscular clinic records in Lebanon, describing 506 patients with 62 disorders, mostly spinal muscular atrophy and muscular dystrophies, plus varied CMT presentations.

From the abstractCMT cases in a national cohort; may include CMT2C

TRP channels in health and disease at a glance

Yue L, Xu H · 2021 · Journal of cell science

A short illustrated summary of the TRP channel superfamily, covering its history, activation, structure, calcium selectivity and roles in inherited and acquired diseases.

From the abstractTRP channelopathies; may list TRPV4 neuropathy

Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy

Maggi L, Bonanno S, Altamura C et al. · 2021 · Cells

Reviews inherited skeletal muscle ion channel disorders, such as myotonia and periodic paralysis, including their features, disease mechanisms and available treatments.

From the abstractChannelopathy review; may cite TRPV4 disorders

Sensory Innervation of the Larynx and the Search for Mucosal Mechanoreceptors

Foote AG, Thibeault SL · 2021 · Journal of speech, language, and hearing research: JSLHR

A tutorial on the sensory nerve supply of the larynx and the mechanically gated ion channels that may let its lining sense touch and pressure.

From the abstractLaryngeal mechanosensing; may discuss TRPV4

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease

Schiavon CR, Shadel GS, Manor U · 2021 · Frontiers in cell and developmental biology

Reviews evidence that impaired movement of mitochondria along nerve fibers may be a common mechanism in axonal CMT, and the research and treatment opportunities this suggests.

From the abstractAxonal CMT mechanisms; may list CMT2C

Formin 3 directs dendritic architecture via microtubule regulation and is required for somatosensory nociceptive behavior

Das R, Bhattacharjee S, Letcher JM et al. · 2021 · Development (Cambridge, England)

Shows in fruit fly larvae that Formin 3 shapes the branches of pain-sensing neurons through microtubules and is needed for heat pain responses, with links to INF2-related CMT.

From the abstractCMT sensory neuropathy context; may cite other CMT genes

Orphan Peripheral Neuropathies

Finsterer J, Löscher WN, Wanschitz J et al. · 2021 · Journal of neuromuscular diseases

Reviews the causes, frequency, diagnosis and treatment of rare (orphan) neuropathies, arguing that they make up most neuropathies and that some are easy to identify and treatable.

From the abstractRare neuropathy review; may list CMT2C

Taste the Pain: The Role of TRP Channels in Pain and Taste Perception

Aroke EN, Powell-Roach KL, Jaime-Lara RB et al. · 2020 · International journal of molecular sciences

A narrative review of how TRP channels contribute to both taste and pain perception, including links between TRPV1 gene variation, pain conditions and salt taste.

From the abstractLink to CMT2C not clear from the abstract

A Database of Caenorhabditis elegans Locomotion and Body Posture Phenotypes for the Peripheral Neuropathy Model

Chung KW, Kim JS, Lee KS · 2020 · Molecules and cells

Records movement and body posture in 26 worm strains with defects in neuropathy-related genes, identifying HSPB1, MFN2, DYNC1H1 and KIF1B worms as possible neuropathy models.

From the abstractScreens neuropathy gene models; may include TRPV4

Steroids and TRP Channels: A Close Relationship

Méndez-Reséndiz KA, Enciso-Pablo Ó, González-Ramírez R et al. · 2020 · International journal of molecular sciences

Reviews how steroids affect TRP channels, both by changing how many channels cells make and by binding directly to some channels.

From the abstractLink to CMT2C not clear from the abstract

The Urothelium: Life in a Liquid Environment

Dalghi MG, Montalbetti N, Carattino MD et al. · 2020 · Physiological reviews

Reviews advances in understanding the urothelium, the lining of the urinary tract, including its development, barrier function, sensing roles and new research tools.

From the abstractUrothelial sensors; may discuss TRPV4

Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease

Kitani-Morii F, Noto YI · 2020 · International journal of molecular sciences

Reviews the clinical features of CMT and how fruit fly models have advanced research on its mechanisms, including mitochondria, axonal transport and glucose metabolism.

From the abstractCMT fly models; may cite CMT2C

Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases

Martin PB, Hicks AN, Holbrook SE et al. · 2020 · Brain research

Reviews genetic and biological overlaps between Charcot-Marie-Tooth disease and other neuropathies, motor neuron diseases and neurodegenerative disorders, and what they mean for finding treatments.

From the abstractCMT overlap syndromes; may cite TRPV4

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

Machado R, Pinto-Basto J, Negrão L · 2019 · Acta myologica: myopathies and cardiomyopathies: official journal of the Mediterranean Society of Myology

Reports two related Portuguese adults with axonal CMT type 2 caused by the NEFL mutation p.Tyr265Cys, one with ataxic neuropathy and the other with classic CMT.

From the abstractCMT2 subtype report; may cite CMT2C

Defects in Axonal Transport in Inherited Neuropathies

Beijer D, Sisto A, Van Lent J et al. · 2019 · Journal of neuromuscular diseases

Reviews how faults in axonal transport, the movement of cargo along nerve fibers, contribute to inherited peripheral neuropathies, and describes emerging models and treatment strategies.

From the abstractAxonal neuropathy mechanisms; may list CMT2C

THE CONCISE GUIDE TO PHARMACOLOGY 2019/20: Ion channels

Alexander SPH, Mathie A, Peters JA et al. · 2019 · British journal of pharmacology

A reference guide summarizing key properties and the best pharmacological tools for ion channel drug targets, part of the 2019/20 Concise Guide to Pharmacology.

From the abstractLikely includes a TRPV4 entry

TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton

Burren CP, Caswell R, Castle B et al. · 2018 · American journal of medical genetics. Part A

Reports an infant with severely under-mineralized, fractured bones before birth caused by two TRPV6 gene variants thought to impair calcium transport across the placenta.

From the abstractRelated TRPV channel in skeletal disease

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene

Nadol JB, Hedley-Whyte ET, Amr SS et al. · 2018 · Audiology & neuro-otology

Describes post-mortem inner ear findings in a person with CMT1B from an MPZ variant, showing myelin damage in the hearing, balance and facial nerves.

From the abstractHearing and cranial nerves in CMT; may cite CMT2C

Cancer Stem Cells: Emergent Nature of Tumor Emergency

Efremov YR, Proskurina AS, Potter EA et al. · 2018 · Frontiers in genetics

Analyzes 167 genes overexpressed in Krebs-2 tumor-initiating cells, linking many to malignancy and stem cell features, and proposes how cellular stress may trigger stem-like states.

From the abstractLink to CMT2C not clear from the abstract

PROCEEDINGS OF THE XVIII CONGRESS OF THE ITALIAN ASSOCIATION OF MYOLOGY: Genoa, Italy June 6-9, 2018

 · 2018 · Acta myologica: myopathies and cardiomyopathies: official journal of the Mediterranean Society of Myology

Based on the title only, the proceedings of the 18th Congress of the Italian Association of Myology, Genoa, June 2018; no abstract was available.

From the titleConference abstracts; may include CMT2C work

Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy

Teoh HL, Carey K, Sampaio H et al. · 2017 · Neural plasticity

Reviews the clinical features, genetics and mechanisms of inherited childhood motor neuron disorders other than classic SMN1-related spinal muscular atrophy, and the role of next-generation sequencing.

From the abstractMay include TRPV4-related motor neuron disorders

Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies

Haidar M, Timmerman V · 2017 · Frontiers in molecular neuroscience

Reviews evidence that disrupted autophagy, the cell's system for clearing old proteins and organelles, may be a common mechanism across inherited peripheral neuropathies.

From the abstractLists neuropathy genes; may include TRPV4

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Wangler MF, Yamamoto S, Chao HT et al. · 2017 · Genetics

Reviews how model organism research, combined with human genetics, helps diagnose rare undiagnosed diseases and find new treatments, highlighting large international networks.

From the abstractLink to CMT2C not clear from the abstract

2017 Peripheral Nerve Society Meeting July 8-12, 2017 Sitges, Barcelona, Spain

 · 2017 · Journal of the peripheral nervous system: JPNS

Based on the title only, the abstract book of the 2017 Peripheral Nerve Society Meeting in Sitges, Barcelona; no abstract was available.

From the titleConference abstracts; may include CMT2C work

TRP Channels in Skin Biology and Pathophysiology

Caterina MJ, Pang Z · 2016 · Pharmaceuticals (Basel, Switzerland)

Reviews the roles of TRP channels in skin cells, their links to itch, pain, dermatitis, hair loss, wound healing and skin cancer, and their potential as drug targets.

From the abstractLink to CMT2C not clear from the abstract

Transcriptomic analyses of genes and tissues in inherited sensory neuropathies

Sapio MR, Goswami SC, Gross JR et al. · 2016 · Experimental neurology

Uses RNA sequencing of human and rat sensory ganglia and nerve to show where inherited sensory neuropathy genes are active, to help design gene panels and find drug targets.

From the abstractNeuropathy gene expression; may include TRPV4

Mechanical dynamics in live cells and fluorescence-based force/tension sensors

Yang C, Zhang X, Guo Y et al. · 2015 · Biochimica et biophysica acta

Reviews how cells sense and respond to mechanical forces and summarizes new fluorescence-based sensors that measure forces within structural proteins in live cells.

From the abstractMechanosensors; may mention TRPV4

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

Punetha J, Monges S, Franchi ME et al. · 2015 · Pediatric neurology

Describes a 3.6-year-old girl with congenital scoliosis, foot deformity and leg wasting who had a new DYNC1H1 mutation linked to leg-predominant spinal muscular atrophy.

From the abstractMay cite TRPV4 among distal SMA genes

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Rossor AM, Oates EC, Salter HK et al. · 2015 · Brain: a journal of neurology

Describes 32 people from nine families with BICD2 mutations, detailing a leg-predominant spinal muscular atrophy that is static or slowly progressive, sometimes with upper motor neuron signs.

From the abstractLeg-predominant SMA; may cite TRPV4 among causes

Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties

Saporta MA, Dang V, Volfson D et al. · 2015 · Experimental neurology

Turns stem cells from people with CMT2A and CMT2E into motor neurons and finds structural, mitochondrial transport and electrical abnormalities in these cells.

From the abstractAxonal CMT models; may cite CMT2C

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations

Guerreiro R, Brás J, Hardy J et al. · 2014 · Human molecular genetics

Reviews how exome sequencing has revealed new genes and unexpected presentations of known disease genes in neurodegenerative and other neurological conditions, focusing on pleiotropy.

From the abstractOne gene, many diseases; may cite TRPV4 as an example

Clinical and genetic diversity of SMN1-negative proximal spinal muscular atrophies

Peeters K, Chamova T, Jordanova A · 2014 · Brain: a journal of neurology

Reviews the clinical features, causative genes and disease mechanisms of proximal spinal muscular atrophies not caused by SMN1, with 16 genes and one locus known.

From the abstractLists non-5q SMA genes, possibly including TRPV4

Channelopathies

Kim JB · 2014 · Korean journal of pediatrics

A brief overview of channelopathies, diseases caused by faulty ion channels, affecting the nerves, heart, breathing, hormones, urinary tract and immune system.

From the abstractChannelopathy overview; may list TRPV4 disorders

TRP channels in lower urinary tract dysfunction

Franken J, Uvin P, De Ridder D et al. · 2014 · British journal of pharmacology

Reviews the roles of TRP channels, including TRPV1, TRPM8, TRPA1 and TRPV4, in bladder sensation and lower urinary tract dysfunction, and their potential as drug targets.

From the abstractTRPV4 in bladder function

The TRPA1 channel in migraine mechanism and treatment

Benemei S, Fusi C, Trevisan G et al. · 2014 · British journal of pharmacology

Reviews evidence that the TRPA1 channel in pain-sensing nerve endings contributes to migraine and could be a target for new migraine and pain medicines.

From the abstractLink to CMT2C not clear from the abstract

Neuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sites

Benndorf R, Martin JL, Kosakovsky Pond SL et al. · 2014 · Mutation research. Reviews in mutation research

Analyzes disease-causing mutations in four small heat shock protein genes linked to motor neuropathies and myopathies, comparing the mutation sites across vertebrate species.

From the abstractMotor neuropathy genetics; may cite other CMT2 genes

TRPV1 and Endocannabinoids: Emerging Molecular Signals that Modulate Mammalian Vision

Ryskamp DA, Redmon S, Jo AO et al. · 2014 · Cells

Reviews evidence on where the TRPV1 channel is found in the mammalian retina and how it may interact with endocannabinoid signaling to affect vision.

From the abstractLink to CMT2C not clear from the abstract

Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called “Next Generation Prenatal Diagnosis” (NGPD)

Giorlandino C, Mesoraca A, Bizzoco D et al. · 2014 · Journal of prenatal medicine

Based on the title only, discusses using next-generation sequencing on amniotic fluid and chorionic villus samples for prenatal diagnosis; no abstract was available.

From the titleLink to CMT2C not clear from the title

Transient receptor potential (TRP) channels: a clinical perspective

Kaneko Y, Szallasi A · 2014 · British journal of pharmacology

Reviews TRP channels from a clinical view, including inherited TRP channelopathies affecting the heart, kidney, skeleton and nerves, and drug development aimed at these channels.

From the abstractTRP channelopathies of nerve and skeleton, likely TRPV4

Novel SOD1 mutation discovered in atypical ALS by whole exome sequencing

Klein CJ, Wu Y, Duan X et al. · 2013 · Journal of neurology, neurosurgery, and psychiatry

Describes a man with slowly progressive, symmetrical weakness of the feet and hands from age 39. He was long suspected of having an inherited motor neuropathy, and HMSN 2C (CMT2C) was among the later diagnoses considered because of bulbar weakness, slurred speech and swallowing problems. Whole exome sequencing found a new mutation in SOD1, a gene behind some familial ALS.

From the full paperAn atypical case in which HMSN 2C (CMT2C) was considered before a SOD1 mutation was found

Characterization of functional TRPV1 channels in the sarcoplasmic reticulum of mouse skeletal muscle

Lotteau S, Ducreux S, Romestaing C et al. · 2013 · PloS one

Shows that the TRPV1 channel sits in the internal calcium store of mouse skeletal muscle fibers, where it can release calcium and may interact with the RyR1 channel.

From the abstractRelated TRPV channel in muscle; may cite TRPV4 disease

Genes, molecules and patients--emerging topics to guide clinical pain research

Sikandar S, Patel R, Patel S et al. · 2013 · European journal of pharmacology

Reviews four emerging areas of clinical pain research: inherited pain conditions caused by channel genes, cold sensing, neuro-immune interactions and cancer-induced bone pain.

From the abstractInherited channel disorders; may cite TRPV4 neuropathy

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases

Sailer A, Scholz SW, Gibbs JR et al. · 2012 · Neurology

Uses exome sequencing in a five-generation British family with inherited ataxia to find a new PRKCG mutation, showing its value for diagnosing genetically varied diseases.

From the abstractLink to CMT2C not clear from the abstract

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

Harms MB, Ori-McKenney KM, Scoto M et al. · 2012 · Neurology

Finds mutations in the tail domain of the DYNC1H1 gene in families with dominant spinal muscular atrophy mainly affecting the legs, and shows that one disrupts the dynein complex.

From the abstractDominant SMA genetics; may cite TRPV4 as another cause

Charcot-Marie-Tooth disease and intracellular traffic

Bucci C, Bakke O, Progida C · 2012 · Progress in neurobiology

Reviews how faults in genes that control membrane traffic inside cells, such as vesicle formation and mitochondrial fission and fusion, cause Charcot-Marie-Tooth disease.

From the abstractCMT mechanisms review; may list CMT2C

Clinical approach to the diagnostic evaluation of hereditary and acquired neuromuscular diseases

McDonald CM · 2012 · Physical medicine and rehabilitation clinics of North America

Describes how clinicians evaluate suspected hereditary or acquired neuromuscular disease using history, examination, nerve and muscle tests, biopsies and genetic testing.

From the abstractLink to CMT2C not clear from the abstract

Genomic medicine enters the neurology clinic

Coppola G, Geschwind DH · 2012 · Neurology

Based on the title only, a piece on genomic medicine entering neurology practice; no abstract was available.

From the titleLink to CMT2C not clear from the title

Structural biology of TRP channels

Li M, Yu Y, Yang J · 2011 · Advances in experimental medicine and biology

Reviews what structural studies had shown about TRP channels, mostly from fragments such as ankyrin repeats, as no high-resolution full-length structure yet existed.

From the abstractTRP channel structure; may discuss TRPV4 disease mutations

The transient receptor potential family of ion channels

Nilius B, Owsianik G · 2011 · Genome biology

An introduction to the TRP ion channel superfamily, its seven subfamilies, how the channels open and what roles they play in cells across many species.

From the abstractNotes TRP channel mutations cause disease, likely including CMT2C

Functional and structural studies of TRP channels heterologously expressed in budding yeast

Moiseenkova-Bell V, Wensel TG · 2011 · Advances in experimental medicine and biology

Reviews how budding yeast is used to produce and study TRP channels, including genetic screens for important residues and cryo-electron microscopy of channel structure.

From the abstractTRP channel methods; may cite TRPV4 disease mutations

Quantitative and integrative proteome analysis of peripheral nerve myelin identifies novel myelin proteins and candidate neuropathy loci

Patzig J, Jahn O, Tenzer S et al. · 2011 · The Journal of neuroscience: the official journal of the Society for Neuroscience

Identifies 545 proteins in mouse peripheral nerve myelin, including new myelin components, and compares them with human disease loci to suggest candidate neuropathy genes.

From the abstractCompares candidates with neuropathy loci; may list CMT2C

Transient receptor potential (TRP) channels as drug targets for diseases of the digestive system

Holzer P · 2011 · Pharmacology & therapeutics

Reviews the roles of TRP channels, including TRPV4, in the digestive system and their potential as drug targets for digestive diseases.

From the abstractTRPV4 among digestive TRP channels; may cite TRPV4 disease

A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome

Kremeyer B, Lopera F, Cox JJ et al. · 2010 · Neuron

Identifies a gain-of-function mutation in the TRPA1 channel gene that causes an inherited syndrome of episodic upper body pain triggered by fasting and physical stress.

From the abstractRelated TRP channel disease; may cite TRPV4 channelopathies

International Union of Basic and Clinical Pharmacology. LXXVI. Current progress in the mammalian TRP ion channel family

Wu LJ, Sweet TB, Clapham DE · 2010 · Pharmacological reviews

A pharmacology review of the mammalian TRP ion channel family, covering how these channels sense stimuli, their roles in the body and how drugs act on them.

From the abstractTRP channel review; may note TRPV4 disease mutations

Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4

Stendel C, Roos A, Deconinck T et al. · 2007 · American journal of human genetics

Shows that faults in the frabin/FGD4 gene cause recessive demyelinating CMT, and that the protein helps shape Schwann cells, which insulate nerves.

From the abstractCMT gene discovery; may cite other CMT types

Ribosomal protein gene knockdown causes developmental defects in zebrafish

Uechi T, Nakajima Y, Nakao A et al. · 2006 · PloS one

Knocks down 21 ribosomal protein genes in zebrafish embryos and finds that many cause gene-specific developmental defects, especially in the brain.

From the abstractLinks genes to human disease regions, possibly the CMT2C region

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

De Sandre-Giovannoli A, Delague V, Hamadouche T et al. · 2005 · Journal of medical genetics

Based on the title only, maps a recessive demyelinating CMT form, CMT4H, to a new region on chromosome 12 using homozygosity mapping; no abstract was available.

From the titleCMT locus mapping; may cite other CMT loci

A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease

Santoro L, Manganelli F, Di Maria E et al. · 2004 · Journal of neurology, neurosurgery, and psychiatry

Describes three members of an Italian family with mild, late-onset axonal CMT caused by a new Asp109Glu mutation in the myelin protein zero (MPZ) gene.

From the abstractAxonal CMT genetics; may cite CMT2 subtypes

Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3

Nelis E, Berciano J, Verpoorten N et al. · 2004 · Journal of medical genetics

Based on the title only, maps an autosomal dominant axonal CMT form, CMT2G, to chromosome 12q12-q13.3; no abstract was available.

From the titleCMT2 locus mapping; may cite other CMT2 loci

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

Jordanova A, Thomas FP, Guergueltcheva V et al. · 2003 · American journal of human genetics

Reports two unrelated families with dominant intermediate CMT linked to a new region on chromosome 1p34-p35 and rules out two candidate genes.

From the abstractCMT locus mapping; may cite other mapped CMT loci

Genetic neuromuscular disease

Reilly MM, Hanna MG · 2002 · Journal of neurology, neurosurgery, and psychiatry

Based on the title only, an overview of genetic neuromuscular diseases; no abstract was available.

From the titleLink to CMT2C not clear from the title

Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2

Kennerson ML, Zhu D, Gardner RJ et al. · 2001 · American journal of human genetics

Uses genetic linkage analysis to map a new form of CMT, dominant intermediate CMT, to a region on the short arm of chromosome 19.

From the abstractCMT locus mapping; may cite other mapped CMT loci

Distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31

McEntagart M, Spurlock G, Jackson C et al. · 2000 · Journal of medical genetics

Based on the title only, reports that distal spinal muscular atrophy with vocal cord paralysis (dSMA-VII) is not linked to the MPD2 locus on chromosome 5q31.

From the titleLink to CMT2C not clear from the title

Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible “hotspot” on Thr124Met

Senderek J, Hermanns B, Lehmann U et al. · 2000 · Brain pathology (Zurich, Switzerland)

Screens 49 people with axonal CMT2 for changes in the myelin protein zero (MPZ) gene, finding two new mutations and a recurring Thr124Met change.

From the abstractScreens a CMT2 cohort; may cite other CMT2 types

The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map

Ellsworth RE, Ionasescu V, Searby C et al. · 1999 · Genome research

Refines the position of the CMT2D gene region on chromosome 7p14 in a large family and builds a physical map of DNA clones across it.

From the abstractAbstract notes four CMT2 loci, likely including CMT2C

Inherited neuropathies: from gene to disease

Keller MP, Chance PF · 1999 · Brain pathology (Zurich, Switzerland)

A 1999 review of inherited peripheral nerve disorders, including CMT1, X-linked CMT, CMT2, Dejerine-Sottas disease and HNPP, and the genes or chromosome regions linked to each.

From the abstractLists mapped CMT2 forms; CMT2C may appear in the full text

Genetic aspects of Charcot-Marie-Tooth disease

Bell C, Haites N · 1998 · Archives of disease in childhood

A 1998 overview of the genetics of Charcot-Marie-Tooth disease written for pediatricians, covering the demyelinating and axonal forms, the genes known at the time and the role of Schwann cells. CMT2C is listed as a fourth axonal form, distinguished by diaphragm and vocal cord weakness and genetically distinct from CMT2A and CMT2B; its gene was still unknown.

From the full paperAn early summary that places CMT2C among the axonal forms

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family

De Jonghe P, Timmerman V, FitzPatrick D et al. · 1997 · Journal of neurology, neurosurgery, and psychiatry

Describes a family with axonal CMT2 linked to chromosome 3q13-q22 (CMT2B), in which some members had marked sensory loss and poorly healing ulcers.

From the abstractCMT2 linkage study; may cite CMT2C as another CMT2 type