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A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia

✍ Scribed by Laura Alias; Pı́a Gallano; Dolores Moreno; Ramón Pujol; Juan Antonio Martı́nez-Matos; Montserrat Baiget; Isidro Ferrer; Montse Olivé


Book ID
116792162
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
231 KB
Volume
14
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