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Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis

✍ Scribed by H. Ueyama; H. Horinouchi; K. Obayashi; M. Hashinaga; T. Okazaki; T. Kumamoto


Book ID
116792827
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
298 KB
Volume
17
Category
Article
ISSN
0960-8966

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## 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 d