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糖原累积病(McArdle’ s disease,MD)是由于肌肉磷酸化酶缺乏引起的常染色体隐性遗传的肌肉疾病。新近,Tsujino等报道了与MD有关的肌肉磷酸化酶基因几种遗传突变的类型。本文报道2例日本MD同胞早期肌电图(EMG)发现。
McArdle’s disease (MD) is an autosomal recessive muscle disease caused by muscle phosphorylase deficiency. Recently, Tsujino et al. Reported the types of genetic mutations in MD-related muscle phosphorylase genes. This article reports the discovery of 2 cases of Japanese MD siblings early electromyography (EMG).