Research papers
How to read the research library
At a glanceHow the 271 papers were found, how the 106 most relevant were analyzed and checked, and what the scores and labels mean.
How the papers were found
I searched Europe PMC and PubMed for every paper that mentions CMT2C, HMSN 2C or TRPV4 neuropathy, including older papers that use the original name “HMSN with diaphragm and vocal cord paresis”. Papers that turned out to be unrelated were removed. Full texts came from open-access archives, university repositories and copies I downloaded myself.
How each paper was analyzed
Each of the 106 most relevant papers was read in full where possible, including its methods and tables, by an AI reader following one written set of rules:
- Use only what the paper says, and copy every number exactly.
- Back each finding and each problem with a short quote from the paper, and say where it is.
- Look specifically at how relatives were judged affected or unaffected, how people were chosen, sample size, controls, genetics, lab models, funding and any overreach.
- Be fair. A case report is valuable for what it is. A problem only counts when the conclusions go further than the data.
Afterward the quotes were checked against the papers themselves. All 915 quotes from papers with searchable text were matched word for word by computer. The other 71 come from papers that exist only as scanned page images, so they were checked by eye. AI can still misread a table or miss context, so please treat each analysis as a careful first reading, and use the link to the original paper when it matters.
Relevance (green dots)
- 5 Directly about people with CMT2C or TRPV4 neuropathy.
- 4 TRPV4 nerve and muscle disease in general, or the mechanism behind it.
- 3 Related TRPV4 conditions (SPSMA, congenital distal SMA, bone overlap), or wider CMT2 work with real CMT2C content.
- 2 Mostly about something else, with a meaningful CMT2C section.
- 1 A passing mention.
Evidence (gold dots)
How well a study supports its own main claims. It is about the study design, not how important the topic is.
- 5 A large, well-designed patient study, or strong replicated genetics.
- 4 A solid study with some limits.
- 3 A small series, or good lab work.
- 2 A single case, a letter, or lab work far from people.
- 1 Opinion, an abstract only, or serious flaws.
No paper here scored 5 for evidence. CMT2C is rare, so even the best studies are small, and the researchers who run them work hard to find enough participants. Small numbers are a reason to read carefully, not a criticism of the people doing the work.
Source labels
- Full paper: the whole paper was read.
- Full paper (scan): the whole paper was read from scanned page images, so its quotes were checked by eye.
- Detailed summary only: the paper itself was not available, so the analysis rests on a detailed summary written by another reader. Treat it with more caution.
- Abstract only: only the abstract was available, so the methods cannot be judged. These score 1 for evidence whatever the study's real quality.
- From the abstract or From the full paper: short notes about less relevant papers, on the All papers page, written from the abstract or from the full paper.
Problem labels
- Majorcould change the main conclusion.
- Moderatelimits how far the conclusion can be trusted or applied.
- Minora slip or a limit worth knowing about that does not change the main result.
What is missing
Some papers could only be read as abstracts because the full text is behind a paywall, including the 1994 paper that first described CMT2C. Their analyses will be updated as copies are found. If you are an author of one of these papers and can share a copy, I would be grateful to hear from you through the contact page.