open access

https://hdl.handle.net/2115/440

Caveolin-3 gene mutation in Japanese with rippling muscle disease

英語

rippling muscle disease

2003-07

Blackwell Publishing

Acta Neurologica Scandinavica

108(1)

47-51

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.

学術雑誌論文

Accepted Manuscript

Copyright (c) 2003 Blackwell Munksgaard

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