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Article

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

Neurology - 27 May 2014

Echaniz-Laguna Andoni, Dubourg Odile, Carlier Pierre, Carlier Robert-Yves, Sabouraud Pascal, Péréon Yann, Chapon Françoise, Thauvin-Robinet Christel, Laforêt Pascal, Eymard Bruno, Latour Philippe, Stojkovic Tanya

Abstract excerpt

OBJECTIVE: To clarify the phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathies. METHODS: We screened for TRPV4 mutations in 169 French unrelated patients with inherited axonal peripheral neuropathy. Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, 14 with...

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Source

Identifiers

PMID: 24789864
DOI: 10.1212/WNL.0000000000000450

Genes

TRPV4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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