Access

Brief Communication

Nature Genetics 28, 218–219 (1 July 2001) | doi:10.1038/90050

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

Regina C. Betz , Benedikt G. H. Schoser , Dagmar Kasper , Kenneth Ricker , Alfredo Ram|[iacute]|rez , Valentin Stein , Torberg Torbergsen , Young-Ae Lee , Markus M. N|[ouml]|then , Thomas F. Wienker , Jean-Pierre Malin , Peter Propping , Andr|[eacute]| Reis , Wilhelm Mortier , Thomas J. Jentsch , Matthias Vorgerd & Christian Kubisch

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.