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A novel missense mutation in the caveolin-3 gene in rippling muscle disease

✍ Scribed by Paulo J. Lorenzoni; Rosana H. Scola; Natassia Vieira; Mariz Vainzof; Ana L. M. Carsten; Lineu C. Werneck

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
410 KB
Volume
36
Category
Article
ISSN
0148-639X

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✦ Synopsis

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 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. Muscle Nerve, 2007

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## 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