Article
Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.
Neuromuscular disorders : NMD - 1 Aug 2011
Bissay Véronique, Keymolen Kathelijn, Lissens Willy, Laureys Guy, Schmedding Eric, De Keyser Jacques
Abstract excerpt
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.
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