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Article

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

Neurology - 30 Nov 2010

Chen D-H, Sul Y, Weiss M, Hillel A, Lipe H, Wolff J, Matsushita M, Raskind W, Bird T

Abstract excerpt

BACKGROUND: Recently, mutations in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4) have been reported in Charcot-Marie-Tooth Type 2C (CMT2C) with vocal cord paresis. Other mutations in this same gene have been described in separate families with various skeleta...

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Identifiers

PMID: 21115951
DOI: 10.1212/WNL.0b013e3181ffe4bb
PMCID: PMC3014233

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21115951-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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