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Article

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

Neuromuscular disorders : NMD - 1 Nov 2014

Furby A, Vicart S, Camdessanché J P, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B

Abstract excerpt

Nondystrophic myotonias are characterized by muscle stiffness triggered by voluntary movement. They are caused by mutations in either the CLCN1 gene in myotonia congenita or in the SCN4A gene in paramyotonia congenita and sodium channel myotonias. Clinical and electrophysiological phenotypes of these disorders have been well described. No concomitant mutations in both genes have been reported yet. We report five...

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Source

Identifiers

PMID: 25088311
DOI: 10.1016/j.nmd.2014.06.439

Genes

CLCN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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