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
  • 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.