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Caveolin‐3 gene mutation in Japanese with rippling muscle disease
Author(s) -
Yabe I.,
Kawashima A.,
Kikuchi S.,
Higashi T.,
Fukazawa T.,
Hamada T.,
Sasaki H.,
Tashiro K.
Publication year - 2003
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1034/j.1600-0404.2003.00083.x
Subject(s) - muscle biopsy , missense mutation , caveolin 3 , muscle atrophy , immunohistochemistry , myopathy , mutation , muscle weakness , weakness , pathology , medicine , neuromuscular disease , atrophy , mutation testing , gene mutation , biology , biopsy , disease , gene , genetics , anatomy , membrane , caveolae
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.