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Article

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

Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2012

Fawcett Katherine A, Murphy Sinead M, Polke James M, Wray Selina, Burchell Victoria S, Manji Hadi, Quinlivan Ros M, Zdebik Anselm A, Reilly Mary M, Houlden Henry

Abstract excerpt

BACKGROUND: TRPV4 mutations have been identified in Charcot-Marie-Tooth type 2 (CMT2), scapuloperoneal spinal muscular atrophy and distal hereditary motor neuropathy (dHMN). OBJECTIVE: We aimed to screen the TRPV4 gene in 422 British patients with inherited neuropathy for potentially pathogenic mutations. METHODS: We sequenced TRPV4 coding regions and splice junctions in 271 patients with CMT2 and 151 patients...

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Source

Identifiers

PMID: 22851605
DOI: 10.1136/jnnp-2012-303055

Genes

TRPV4
MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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