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A new missense mutation in caveolin-3 gene causes rippling muscle disease

✍ Scribed by M. Teresa Dotti; Alessandro Malandrini; Simona Gambelli; Claudio Salvadori; Nicola De Stefano; Antonio Federico

Book ID
119301886
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
407 KB
Volume
243
Category
Article
ISSN
0022-510X

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πŸ“œ SIMILAR VOLUMES

A novel missense mutation in the caveoli
A novel missense mutation in the caveolin-3 gene in rippling muscle disease
✍ Paulo J. Lorenzoni; Rosana H. Scola; Natassia Vieira; Mariz Vainzof; Ana L. M. C πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 410 KB

## 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