Article
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Annals of neurology - 1 Apr 2003
Kubisch Christian, Schoser Benedikt G H, von Düring Monika, Betz Regina C, Goebel Hans-Hilmar, Zahn Susanne, Ehrbrecht Antje, Aasly Jan, Schroers Anja, Popovic Nikola, Lochmüller Hanns, Schröder J Michael, Brüning Thomas, Malin Jean-Pierre, Fricke Britta, Meinck Hans-Michael, Torbergsen Torberg, Engels Hartmut, Voss Bruno, Vorgerd Matthias
Abstract excerpt
Heterozygous missense mutations in the caveolin-3 gene (CAV3) cause different muscle disorders. Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness. In some patients, CAV3 mutations underlie the progressive limb-girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel...
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