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Article

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Neuromuscular disorders : NMD - 1 May 2009

Dupré Nicolas, Chrestian Nicolas, Bouchard Jean-Pierre, Rossignol Elsa, Brunet Denis, Sternberg Damien, Brais Bernard, Mathieu Jean, Puymirat Jack

Abstract excerpt

Thirty-three French-Canadian families with non-dystrophic myotonia were identified. Fifty subjects were recruited and submitted to a complete clinical, electrophysiologic and genetic evaluation. Thirteen mutations were identified in CLCN1 and five mutations were identified in SCN4A. Onset in the...

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Source

Identifiers

PMID: 18337100
DOI: 10.1016/j.nmd.2008.01.007

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18337100-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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