Article
Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
Muscle & nerve - 1 Jun 2010
Sundblom Jimmy, Stålberg Erik, Osterdahl Maria, Rücker Franz, Montelius Maria, Kalimo Hannu, Nennesmo Inger, Islander Gunilla, Smits Anja, Dahl Niklas, Melberg Atle
Abstract excerpt
Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype-phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty-three patients had percussion-induced muscle mounding (PIMM) and percussion-induced rapid contractions (PIRC)....
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