Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
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.
Betz
R C
RC
Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany.
Schoser
B G
BG
Kasper
D
D
Ricker
K
K
Ramírez
A
A
Stein
V
V
Torbergsen
T
T
Lee
Y A
YA
Nöthen
M M
MM
Wienker
T F
TF
Malin
J P
JP
Propping
P
P
Reis
A
A
Mortier
W
W
Jentsch
T J
TJ
Vorgerd
M
M
Kubisch
C
C
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
C417736:CAV3 protein, human; D051244:Caveolin 3; D022461:Caveolins; D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D003402:Creatine Kinase