Back

Title	en Caveolin-3 gene mutation in Japanese with rippling muscle disease
Creator	en Yabe, Ichiro ja 矢部, 一郎 NRID 1000060372273 en Kawashima, A. en Kikuchi, S. en Higashi, T. en Fukazawa, T. en Hamada, T. en Sasaki, H. en Tashiro, K.
Accessrights	open access
Rights	en Copyright (c) 2003 Blackwell Munksgaard
Subject	Other en caveolin-3 Other en rippling muscle disease NDC 491
Description	Abstract en 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.
Publisher	en Blackwell Publishing
Date	Issued2003-07
Language	eng
Resource Type	journal article
Version Type	AM
Identifier	HDL http://hdl.handle.net/2115/440
Relation	isVersionOf DOI https://doi.org/10.1034/j.1600-0404.2003.00083.x
Journal	PISSN 00016314 en Acta Neurologica Scandinavica Volume Number108 Issue Number1 Page Start47 Page End51
File	fulltext ActaNeurolScand108_p47.pdf 153.41 KB (application/pdf) Issued2003-07
Oaidate	2023-07-26