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.
Department of Neurology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, and Hokkaido Neurology Hospital, Nijyuyonken, Japan. yabe@med.hokudai.ac.jp
