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

Authors

  • R.C. Betz
  • B.G.H. Schoser
  • D. Kasper
  • K. Ricker
  • A. Ramirez
  • V. Stein
  • T. Torbergsen
  • Y.A. Lee
  • M.M. Nothen
  • T.F. Wienker
  • J.P. Malin
  • P. Propping
  • A. Reis
  • W. Mortier
  • T.J. Jentsch
  • M. Vorgerd
  • C. Kubisch

Journal

  • Nature Genetics

Citation

  • Nat Genet 28 (3): 218-219

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.


DOI

doi:10.1038/90050