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Nat Genet. 2001 Jul;28(3):218-9.

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

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1
Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany.

Abstract

Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases.

PMID:
11431690
DOI:
10.1038/90050
[Indexed for MEDLINE]
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