Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. |
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Authors: | R C Betz B G Schoser D Kasper K Ricker A Ramírez V Stein T Torbergsen Y A Lee M M N?then T F Wienker J P Malin P Propping A Reis W Mortier T J Jentsch M Vorgerd C Kubisch |
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Affiliation: | Institut für Humangenetik, Universit?t Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany. |
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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. |
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