Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
RC Betz, BGH Schoser, D Kasper, K Ricker… - Nature …, 2001 - nature.com
RC Betz, BGH Schoser, D Kasper, K Ricker, A Ramírez, V Stein, T Torbergsen, Y Lee…
Nature genetics, 2001•nature.comHereditary rippling muscle disease (RMD) is an autosomal dominant human disorder
characterized by mechanically triggered contractions of skeletal muscle 1, 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 …
characterized by mechanically triggered contractions of skeletal muscle 1, 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 …
Abstract
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle 1, 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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