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.

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.

MeSH terms

  • Caveolin 3
  • Caveolins / genetics*
  • Creatine Kinase / blood
  • Cytoskeletal Proteins / genetics
  • Humans
  • Membrane Glycoproteins / genetics
  • Muscle Contraction*
  • Muscle, Skeletal*
  • Muscular Diseases / genetics*
  • Muscular Dystrophies / genetics
  • Mutation, Missense*
  • Physical Stimulation

Substances

  • CAV3 protein, human
  • Caveolin 3
  • Caveolins
  • Cytoskeletal Proteins
  • Membrane Glycoproteins
  • Creatine Kinase