PubMed 21752396

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Automatically associated channels: Nav1.4

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

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

Journal, date & volume: J. Neurol. Sci., 2011 Sep 15 , 308, 162-4

PubMed link:

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.