Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

被引：139

作者：

Betz, RC

Schoser, BGH

Kasper, D

Ricker, K

Ramírez, A

Stein, V

Torbergsen, T

Lee, YA

Nöthen, MM

Wienker, TF

Malin, JP

Propping, P

Reis, A

Mortier, W

Jentsch, TJ

Vorgerd, M

Kubisch, C

机构：

[1] Univ Bonn, Inst Human Genet, D-53111 Bonn, Germany

[2] Univ Hamburg, Neurol Klin, Hamburg, Germany

[3] Univ Hamburg, Znetrum Mol Neurobiol, Hamburg, Germany

[4] Univ Wurzburg, Neurol Klin, D-8700 Wurzburg, Germany

[5] Univ Tromso Hosp, Dept Neurol, N-9012 Tromso, Norway

[6] Max Delbruck Ctr Mol Med, Gene Mapping Ctr, Berlin, Germany

[7] Univ Bonn, Inst Med Biometrie Informat & Epidemiol, D-53111 Bonn, Germany

[8] Ruhr Univ Bochum, Padiatr Klin, D-4630 Bochum, Germany

来源：

NATURE GENETICS | 2001年 / 28卷 / 03期

关键词：

D O I：

10.1038/90050

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle(1-4). Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAM (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAM 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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页码：218 / 219

页数：2

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