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Article

Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.

The Journal of physiology - 1 Jun 2012

Zhao Juan, Duprè Nicolas, Puymirat Jack, Chahine Mohamed

Abstract excerpt

M1476I, a French Canadian founder mutation of Na⁺ channel Nav1.4, causes potassium-aggravated myotonia, with cold-induced myotonia as the most distinctive clinical feature. Mexiletine, a class 1B local anaesthetic, relieves the myotonic symptoms of patients carrying the M1476I mutation. We used the patch-clamp method to investigate the functional characteristics of this mutation by heterologous expression in...

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Identifiers

PMID: 22250216
DOI: 10.1113/jphysiol.2011.223461
PMCID: PMC3424721

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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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