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首页> 外文期刊>Neuromuscular disorders: NMD >Calpainopathy presenting as foot drop in a 41 year old.
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Calpainopathy presenting as foot drop in a 41 year old.

机译:在41岁时出现脚下垂的Calpainopathy。

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摘要

Mutations in the gene encoding muscle-specific calpain 3 protease cause limb girdle muscular dystrophy type 2A. Calpainopathy is characterised by progressive symmetrical atrophy of pelvic, scapular and trunk muscles with an elevated creatine kinase. Most patients develop symptoms in childhood and lose the ability to walk by the age of 40 years. We describe a man who presented with foot drop at the age of 41 years, together with neurophysiological, histopathological and genetic data. This is the first report of calpainopathy presenting as foot drop, and widens the phenotype associated with this disease.
机译:编码肌肉特异性钙蛋白酶3蛋白酶的基因中的突变引起2A型肢带肌营养不良症。钙蛋白酶病的特征是骨盆,肩cap骨和躯干肌​​肉进行性对称性萎缩,肌酸激酶升高。大多数患者在童年时期就出现症状,到40岁时失去行走的能力。我们描述了一个在41岁时脚下垂的人以及神经生理学,组织病理学和遗传学数据。这是钙蛋白酶病以脚下垂形式出现的第一个报道,并扩大了与此疾病相关的表型。

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