Nature Genetics
28, 218 - 219 (2001)
doi:10.1038/90050
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle diseaseRegina C. Betz1, 11, Benedikt G. H. Schoser2, 3, 11, Dagmar Kasper2, Kenneth Ricker4, Alfredo Ramírez1, Valentin Stein2, Torberg Torbergsen5, Young-Ae Lee6, Markus M. Nöthen1, 10, Thomas F. Wienker7, Jean-Pierre Malin8, Peter Propping1, André Reis6, Wilhelm Mortier9, Thomas J. Jentsch2, Matthias Vorgerd8
& Christian Kubisch11
Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany, 2
Zentrum für Molekulare Neurobiologie, Universität Hamburg, Hamburg, Germany. 3
Neurologische Klinik, Universität Hamburg, Hamburg, Germany. 4
Neurologische Klinik, Universität Würzburg, Würzburg, Germany. 5
Department of Neurology, University Hospital Tromsø, Tromsø, Norway. 6
Gene Mapping Center, Max-Delbrück-Centrum, Berlin, Germany. 7
Institut für Medizinische Biometrie, Informatik und Epidemiologie, Universität Bonn, Bonn, Germany. 8
Neurologische, Universität Bochum, Bochum, Germany. 9
Pädiatrische Klinik, Universität Bochum, Bochum, Germany. 10
Present address: Department of Medical Genetics, University of Antwerp, Belgium. 11
These authors contributed equally to this work.
Correspondence should be addressed to Christian Kubisch Christian.Kubisch@ukb.uni-bonn.deHereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle1,
2,
3,
4. 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.
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