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- W2013157071 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." @default.
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- W2013157071 date "2007-01-01" @default.
- W2013157071 modified "2023-10-17" @default.
- W2013157071 title "A novel missense mutation in the caveolin-3 gene in rippling muscle disease" @default.
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- W2013157071 doi "https://doi.org/10.1002/mus.20781" @default.
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