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  • Title: A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
    Author: Lorenzoni PJ, Scola RH, Vieira N, Vainzof M, Carsten AL, Werneck LC.
    Journal: Muscle Nerve; 2007 Aug; 36(2):258-60. PubMed ID: 17405141.
    Abstract:
    Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperirritability. We report a 17-year-old patient who presented with muscular hypertrophy, local mounding on percussion, and a rippling phenomenon. Needle electromyography showed electrical silence during the rippling phenomenon. Muscle protein immunohistochemical analysis showed a partial deficiency of caveolin-3. Molecular analysis revealed a novel heterozygous A>C transition at nucleotide position 140 in exon 2 of the caveolin-3 gene. We associated this novel mutation with RMD.
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