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PubMed 21752396


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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: http://www.ncbi.nlm.nih.gov/pubmed/21752396


Abstract
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.