D.P.3.10 Partial caveolin 3 deficiency in acquired rippling muscle disease
✍ Scribed by M. Mirabella; R. Charlton; E.M. Valente; S. Petrini; A. d’Amico; M. Roberts; E. Ricci; F. De Benedetti; R. Barresi; E. Bertini; V. Straub
- Book ID
- 116793567
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 60 KB
- Volume
- 18
- 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
## Abstract Thirty‐nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype–phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individua