Article
Caveolin-3 gene mutation in Japanese with rippling muscle disease.
Acta neurologica Scandinavica - 1 Jul 2003
Yabe I, Kawashima A, Kikuchi S, Higashi T, Fukazawa T, Hamada T, Sasaki H, Tashiro K
Abstract excerpt
OBJECTIVES: Rippling muscle disease (RMD) is a rare myopathy characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients with autosomal dominant RMD. The objective of this study was to determine whether a similar mutation was present in two Japanese families with this condition. PATIENTS AND METHODS: Clinical...
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