2. Academic Validation
  3. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

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

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

Affiliation

  • 1 Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany.
PMID: 11431690 DOI: 10.1038/90050
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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