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Article

Phenotypic variability of TRPV4 related neuropathies.

Neuromuscular disorders : NMD - 1 Jun 2015

Evangelista Teresinha, Bansagi Boglarka, Pyle Angela, Griffin Helen, Douroudis Konstantinos, Polvikoski Tuomo, Antoniadi Thalia, Bushby Kate, Straub Volker, Chinnery Patrick F, Lochmüller Hanns, Horvath Rita

Abstract excerpt

Mutations in the transient receptor potential vanilloid 4 (TRPV4) gene have been associated with autosomal dominant skeletal dysplasias and peripheral nervous system syndromes (PNSS). PNSS include Charcot-Marie-Tooth disease (CMT) type 2C, congenital spinal muscular atrophy and arthrogryposis and scapuloperoneal spinal muscular atrophy. We report the clinical, electrophysiological and muscle biopsy findings in...

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Source

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Identifiers

PMID: 25900305
DOI: 10.1016/j.nmd.2015.03.007
PMCID: PMC4454778

Genes

TRPV4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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