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Article

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

Neurology - 13 Nov 2007

Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire M-J, Chrestian N, Dupré N, Puymirat J, Brais B

Abstract excerpt

BACKGROUND: Myotonia is observed in classic congenital myotonia caused by CLCN1 mutations and in sodium-channel myotonia (SCM) due to SCN4A mutations. METHODS: We assessed 66 electrically proven cases of myotonia belonging to 17 French-Canadian families living in the Saguenay Lac St-Jean area of Quebec, a region well known for its genetic founder effects. The CLCN1 gene was sequenced in one affected member of...

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Source

Identifiers

PMID: 17998485
DOI: 10.1212/01.wnl.0000290831.08585.2c

Genes

CLCN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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