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Acta Neurol Scand. 2003 Jul;108(1):47-51.

Caveolin-3 gene mutation in Japanese with rippling muscle disease.

Author information

  • 1Department of Neurology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, and Hokkaido Neurology Hospital, Nijyuyonken, Japan. yabe@med.hokudai.ac.jp

Abstract

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.

PMID:
12807393
[PubMed - indexed for MEDLINE]
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