Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families
✍ Scribed by Hisaomi Kawai; Masashi Akaike; Makoto Kunishige; Toshio Inui; Katsuhito Adachi; Chiyomi Kimura; Masakazu Kawajiri; Yoshihiko Nishida; Itsuro Endo; Setsuko Kashiwagi; Hiroshi Nishino; Tsutomu Fujiwara; Shiro Okuno; Carinne Roudaut; Isabelle Richard; Jacques S. Beckmann; Kazuo Miyoshi; Toshio Matsumoto
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 469 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0148-639X
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✦ Synopsis
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 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in the pelvic and shoulder girdles, and proximal limb muscles. Muscle pathology revealed dystrophic changes. In two families, an identical G to C mutation at position 1080 the in calpain 3 gene was identified, and a frameshift mutation (1796insA) was found in the third family. The former mutation results in a W360R substitution in the proteolytic site of calpain 3, and the latter in a deletion of the Ca 2+ -binding domain.