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Article

A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.

Journal of the neurological sciences - 15 Sept 2011

Bissay Véronique, Keymolen Kathelijn, Lissens Willy, Schmedding Eric, De Keyser Jacques

Abstract excerpt

One family is described with a novel SCN4A mutation, causing cold-aggravated myotonia without weakness. One affected family member had a normal needle electromyography at room temperature. Myotonic discharges were only discovered after cooling of the tested muscles.

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Identifiers

PMID: 21752396
DOI: 10.1016/j.jns.2011.06.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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