title: Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
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.
authors: Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany.
authors: R C
authors: RC
authors: Betz
authors: B G
authors: BG
authors: Schoser
authors: D
authors: D
authors: Kasper
authors: K
authors: K
authors: Ricker
authors: A
authors: A
authors: Ramírez
authors: V
authors: V
authors: Stein
authors: T
authors: T
authors: Torbergsen
authors: Y A
authors: YA
authors: Lee
authors: M M
authors: MM
authors: Nöthen
authors: T F
authors: TF
authors: Wienker
authors: J P
authors: JP
authors: Malin
authors: P
authors: P
authors: Propping
authors: A
authors: A
authors: Reis
authors: W
authors: W
authors: Mortier
authors: T J
authors: TJ
authors: Jentsch
authors: M
authors: M
authors: Vorgerd
authors: C
authors: C
authors: Kubisch
mesh_terms: D051244:Caveolin 3; D022461:Caveolins / Q000235:genetics*; D003402:Creatine Kinase / Q000097:blood; D003598:Cytoskeletal Proteins / Q000235:genetics; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D009119:Muscle Contraction; D018482:Muscle, Skeletal; D009135:Muscular Diseases / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics; D020125:Mutation, Missense; D010812:Physical Stimulation
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D022461:Caveolins; D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D003402:Creatine Kinase