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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
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
Affiliation:Institut für Humangenetik, Universit?t Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany.
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.
Keywords:
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