Article
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
Neurology - 26 Dec 2001
Vorgerd M, Ricker K, Ziemssen F, Kress W, Goebel H H, Nix W A, Kubisch C, Schoser B G, Mortier W
Abstract excerpt
OBJECTIVE: To determine the cause of sporadic rippling muscle disease (RMD) in a 24-year-old patient. BACKGROUND: RMD is a rare myopathy characterized by percussion-induced rapid muscle contractions (PIRC), muscle mounding, and rippling waves. We have recently found that autosomal dominant RMD is caused by mutations in the caveolin-3 gene (CAV3) on chromosome 3p25. Possibly, increased activity of neuronal nitric...
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