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

Item Type:	Article
Title:	Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
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.
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

Repository Staff Only: item control page