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Autosomal recessive rippling muscle disease with homozygous CAV3 mutations

✍ Scribed by Christian Kubisch; Uwe-Peter Ketelsen; Ingrid Goebel; Heymut Omran


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
122 KB
Volume
57
Category
Article
ISSN
0364-5134

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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