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
- Kawai, H.
- Akaike, M.
- Kunishige, M.
- Inui, T.
- Adachi, K.
- Kimura, C.
- Kawajiri, M.
- Nishida, Y.
- Endo, I.
- Kashiwagi, S.
- Nishino, H.
- Fujiwara, T.
- Okuno, S.
- Roudaut, C.
- Richard, I.
- Beckmann, J. S.
- Miyoshi, K.
- Matsumoto, T.
DOIAbstract
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
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