A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
نویسندگان
چکیده
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.
منابع مشابه
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise induced myalgia, and cramp-like sensations. It is genetically heterogeneous and can be acquired, but most cases show autosomal dominant inheritance due to mutations in the caveolin-3 (CAV3) gene. We report a novel heterozygous missense mutation in CAV3 in a Belgian family with autosomal dominant ...
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ورودعنوان ژورنال:
- Muscle & nerve
دوره 36 2 شماره
صفحات -
تاریخ انتشار 2007