Referenced in: none

Automatically associated channels: Nav1.4

Title: Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.

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

Journal, date & volume: Neuromuscul. Disord., 2011 Aug , 21, 590-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/21664816

Abstract
We describe three Belgian families with a L1436P mutation in the SCN4A gene, causing a sodium channel myotonia with an atypical clinical presentation, characterized by late onset painful cold-aggravated myotonia. These families represent a distinct phenotype within the spectrum of sodium channel myotonia.