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

Official URL:https://doi.org/10.1038/90050
PubMed:View item in PubMed
Creators Name:Betz, R.C. and Schoser, B.G.H. and Kasper, D. and Ricker, K. and Ramirez, A. and Stein, V. and Torbergsen, T. and Lee, Y.A. and Nothen, M.M. and Wienker, T.F. and Malin, J.P. and Propping, P. and Reis, A. and Mortier, W. and Jentsch, T.J. and Vorgerd, M. and Kubisch, C.
Journal Title:Nature Genetics
Journal Abbreviation:Nat Genet
Page Range:218-219
Date:July 2001
Keywords:Caveolin 3, Creatine Kinase, Cytoskeletal Proteins, Membrane Glycoproteins, Muscle Contraction, Skeletal Muscle, Muscular Diseases, Muscular Dystrophies, Missense Mutation, Physical Stimulation
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.
Publisher:Nature Publishing Group (U.S.A.)
Item Type:Article

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