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- Title
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.
- Authors
Kawai, Hisaomi; Akaike, Masashi; Kunishige, Makoto; Inui, Toshio; Adachi, Katsuhito; Kimura, Chiyomi; Kawajiri, Masakazu; Nishida, Yoshihiko; Endo, Itsuro; Kashiwagi, Setsuko; Nishino, Hiroshi; Fujiwara, Tsutomu; Okuno, Shiro; Roudaut, Carinne; Richard, Isabelle; Beckmann, Jacques S.; Miyoshi, Kazuo; Matsumoto, Toshio; Kawai, H; Akaike, M
- Abstract
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 Ca2+-binding domain.
- Publication
Muscle & Nerve, 1998, Vol 21, Issue 11, p1493
- ISSN
0148-639X
- Publication type
journal article
- DOI
10.1002/(SICI)1097-4598(199811)21:11<1493::AID-MUS19>3.0.CO;2-1