Caveolin-3 gene mutation in Japanese with rippling muscle disease


Ichiro Yabe, Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7, Kita-ku, Sapporo 060-8638, Japan
Tel.: +81-11-706-6028
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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 examination, mutational analysis, and muscle immunohistochemistry were carried out in six patients from two Japanese RMD pedigrees.

Results – Apart from the atrophy of the intrinsic muscles in their hands and a slight muscle weakness in their fingers, the clinical features of our patients were compatible with RMD. Our investigation revealed a CAV3 missense mutation, i.e. Arg26Gln in both families. Immunohistochemistry performed on a muscle biopsy specimen showed reduced caveolin-3 surface expression.

Conclusions – Japanese RMD also appears to result from a CAV3 mutation.