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Caveolin-3 gene mutation in Japanese with rippling muscle disease

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Title: Caveolin-3 gene mutation in Japanese with rippling muscle disease
Authors: Yabe, Ichiro1 Browse this author →KAKEN DB
Kawashima, A. Browse this author
Kikuchi, S. Browse this author
Higashi, T. Browse this author
Fukazawa, T. Browse this author
Hamada, T. Browse this author
Sasaki, H. Browse this author
Tashiro, K. Browse this author
Authors(alt): 矢部, 一郎1
Keywords: caveolin-3
rippling muscle disease
Issue Date: Jul-2003
Publisher: Blackwell Publishing
Journal Title: Acta Neurologica Scandinavica
Volume: 108
Issue: 1
Start Page: 47
End Page: 51
Publisher DOI: 10.1034/j.1600-0404.2003.00083.x
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.
Rights: Copyright (c) 2003 Blackwell Munksgaard
Type: article (author version)
URI: http://hdl.handle.net/2115/440
Appears in Collections:医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 矢部 一郎

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