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A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy

โœ Scribed by Hidetsugu Ueyama; Toshihide Kumamoto; Shin-ichiro Nagao; Tomoko Masuda; Hideo Horinouchi; Shin Fujimoto; Tomiyasu Tsuda


Book ID
117669351
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
464 KB
Volume
11
Category
Article
ISSN
0960-8966

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We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ยฑ 3.1 years (mean ยฑ SD), and loss of ambulance occurred at 38.5 ยฑ 2.1 years. Muscle atrophy was predominant in