Calpain-3 deficiency causes a mild muscular dystrophy in childhood
Calpain-3 deficiency causes a mild muscular dystrophy in childhood
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DOI：
10.1055/s-2007-973702
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发表时间：
1997-08-01
期刊：
影响因子：
1.4
通讯作者：
Beckmann, JS
中科院分区：
文献类型：
--
作者：
Topaloglu, H;Dincer, P;Beckmann, JS
在我们的20个LGMD 2家族中，有10个被证明患有肌肉特异性钙激活中性蛋白酶3（calpain-3）缺乏症。所有人都有血缘关系。指数病例目前的年龄在12至23岁之间，另有9名成员受到影响。临床上，患者表现出轻微的过程;到目前为止，没有30岁以下的病例失去自主性。营养不良主要表现为近端萎缩，部分伴有小腿增大和肩胛骨萎缩。在三个案例中，行走被延迟。肌酸激酶水平至少升高了10倍。所有专性携带者肌酸激酶水平正常。5个家系具有相同的551 delA移码突变。在这些家庭有四个相同的核心单倍型，而一个是不同的建议一个独立的起源。钙蛋白酶-3缺乏症通常是儿童时期的轻度肌营养不良症。
Among our 20 families with LGMD2, 10 were documented to have muscle-specific calcium-activated neutral protease 3 (calpain-3) deficiency. Consanguinity was present in all. The current ages of the index cases were between 12 and 23 years, and there were additional nine members affected. Clinically, the patients showed mild courses; none of the cases below age 30 lost autonomy so far. The dystrophy is mainly proximal and atrophic with calf enlargement and scapular wasting in some. In three cases walking was delayed. Creatine kinase levels were at least 10 times elevated. All obligate carriers had normal creatine kinase levels. Five families shared the same 551delA frameshift mutation. In four of these families there was the same core haplotype, whereas one was distinct suggesting an independent origin. Calpain-3 deficiency in general is a mild muscular dystrophy during childhood.