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Late onset painful cold-aggravated myotonia: Three families with SCN4A L1436P mutation

Authors
Journal
Neuromuscular Disorders
0960-8966
Publisher
Elsevier
Volume
21
Issue
8
Identifiers
DOI: 10.1016/j.nmd.2011.05.006
Keywords
  • Myotonia
  • Cold-Aggravated
  • Scn4A
  • L1436P
  • Sodium Channel

Abstract

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.

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