Calpain 3 gene mutations: genetic and clinico-pathologic findings in limb-girdle muscular dystrophy
β Scribed by Jonghee Chae; Narihiro Minami; Yuko Jin; Masahiro Nakagawa; Kumiko Murayama; Fumie Igarashi; Ikuya Nonaka
- Book ID
- 117669411
- Publisher
- Elsevier Science
- Year
- 2001
- Tongue
- English
- Weight
- 959 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 Β± 3.1 years (mean Β± SD), and loss of ambulance occurred at 38.5 Β± 2.1 years. Muscle atrophy was predominant in