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Article

A novel mutation in CLCN1 associated with feline myotonia congenita.

PloS one - 1 Jan 2014

Gandolfi Barbara, Daniel Rob J, O'Brien Dennis P, Guo Ling T, Youngs Melanie D, Leach Stacey B, Jones Boyd R, Shelton G Diane, Lyons Leslie A

Abstract excerpt

Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the most abundant...

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Source

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Identifiers

PMID: 25356766
DOI: 10.1371/journal.pone.0109926
PMCID: PMC4214686

Genes

CLCN1

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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