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J Neurol Sci. 2011 Sep 15;308(1-2):162-4. doi: 10.1016/j.jns.2011.06.014. Epub 2011 Jul 14.

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

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  • 1Department of Neurology, UZ Brussel, Center for Neurosciences, Vrije universiteit Brussel (VUB), Brussels, Belgium. veronique.bissay@uzbrussel.be

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.

Copyright © 2011 Elsevier B.V. All rights reserved.

PMID:
21752396
[PubMed - indexed for MEDLINE]
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