Referenced in: none

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: 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.