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
First Department of Internal Medicine, School of Medicine, The University of Tokushima, Japan.
Muscle Nerve. 1998 Nov;21(11):1493-501. doi: 10.1002/(sici)1097-4598(199811)21:11<1493::aid-mus19>3.0.co;2-1.
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.
我们报告了来自三个日本家庭的7例2A型肢带型肌营养不良症（LGMD2A）患者的临床、病理和基因特征。平均发病年龄为9.7±3.1岁（平均值±标准差），丧失行走能力发生在38.5±2.1岁。肌肉萎缩主要见于骨盆带和肩胛带以及近端肢体肌肉。肌肉病理学显示有营养不良性改变。在两个家庭中，在钙蛋白酶3基因的第1080位发现了相同的G到C突变，在第三个家庭中发现了移码突变（1796insA）。前一种突变导致钙蛋白酶3蛋白水解位点的W360R替代，后一种突变导致Ca2+结合域缺失。
