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. 2001 Jul;28(3):218-9.
doi: 10.1038/90050.

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

R C Betz  1 , B G Schoser, D Kasper, K Ricker, A Ramírez, V Stein, T Torbergsen, Y A Lee, M M Nöthen, T F Wienker, J P Malin, P Propping, A Reis, W Mortier, T J Jentsch, M Vorgerd, C Kubisch
Affiliations

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

R C Betz et al. Nat Genet. 2001 Jul.

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.

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