肌磷酸化酶缺乏症：一种伴有肌红蛋白尿的异常严重形式。
Myophosphorylase deficiency: an unusually severe form with myoglobinuria.
作者信息
Kristjánsson K, Tsujino S, DiMauro S
机构信息
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
出版信息
J Pediatr. 1994 Sep;125(3):409-10. doi: 10.1016/s0022-3476(05)83287-1.
PMID:8071750
Abstract
Myophosphorylase deficiency (McArdle disease) is characterized by exercise intolerance that usually starts in childhood. Severe cramps and myoglobinuria are rarely problems in children. We describe an 8-year-old boy with exercise-induced myoglobinuria; he was homozygous for the mutation most commonly encountered in patients with typical McArdle disease.
摘要
肌磷酸化酶缺乏症（麦卡德尔病）的特征是运动不耐受，通常始于儿童期。严重痉挛和肌红蛋白尿在儿童中很少出现问题。我们描述了一名8岁患有运动诱发肌红蛋白尿的男孩；他对于典型麦卡德尔病患者中最常见的突变是纯合子。
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