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

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Item Type:	Article
Title:	Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
Creators Name:	Betz, R.C., Schoser, B.G.H., Kasper, D., Ricker, K., Ramirez, A., Stein, V., Torbergsen, T., Lee, Y.A., Nothen, M.M., Wienker, T.F., Malin, J.P., Propping, P., Reis, A., Mortier, W., Jentsch, T.J., Vorgerd, M. and Kubisch, C.
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.
Keywords:	Caveolin 3, Creatine Kinase, Cytoskeletal Proteins, Membrane Glycoproteins, Muscle Contraction, Skeletal Muscle, Muscular Diseases, Muscular Dystrophies, Missense Mutation, Physical Stimulation
Source:	Nature Genetics
ISSN:	1061-4036
Publisher:	Nature Publishing Group
Volume:	28
Number:	3
Page Range:	218-219
Date:	July 2001
Official Publication:	https://doi.org/10.1038/90050
PubMed:	View item in PubMed

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