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Article

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

Neurology - 8 Mar 2011

Klein C J, Shi Y, Fecto F, Donaghy M, Nicholson G, McEntagart M E, Crosby A H, Wu Y, Lou H, McEvoy K M, Siddique T, Deng H-X, Dyck P J

Abstract excerpt

OBJECTIVE: To improve understanding of TRPV4-associated axonal Charcot-Marie-Tooth (CMT) neuropathy phenotypes and their debated pathologic mechanism. METHODS: A total of 17 CMT2C phenotypic families with vocal cord and diaphragmatic involvement and 36 clinically undifferentiated CMT2 subjects underwent sequencing analysis of the coding region of TRPV4. Functional studies of mutant proteins were performed using...

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Source

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Identifiers

PMID: 21288981
DOI: 10.1212/WNL.0b013e31820f2de3
PMCID: PMC3059145

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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