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Caveolin-3 gene mutation in Japanese with rippling muscle disease
| 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)
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Submitter: 矢部 一郎
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