贝克尔肌营养不良症：一种不寻常的表现。
Becker muscular dystrophy: an unusual presentation.
作者信息
Thakker P B, Sharma A
机构信息
Department of Paediatrics, Russells Hall Hospital, Dudley, West Midlands.
出版信息
Arch Dis Child. 1993 Jul;69(1):158-9. doi: 10.1136/adc.69.1.158.
Abstract
A 15 year old boy who presented with passing painless dark urine was found to have myoglobinuria. His creatine phosphokinase was raised, and a muscle biopsy specimen showed non-specific dystrophic changes. Subsequent DNA analysis led to the diagnosis of Becker muscular dystrophy. Myoglobinuria may be a presenting symptom of Becker muscular dystrophy.
摘要
一名15岁男孩出现无痛性深色尿液，经检查发现患有肌红蛋白尿症。他的肌酸磷酸激酶升高，肌肉活检标本显示非特异性营养不良性改变。随后的DNA分析确诊为贝克尔型肌营养不良症。肌红蛋白尿症可能是贝克尔型肌营养不良症的首发症状。
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引用本文的文献
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Becker muscular dystrophy: an unusual presentation.贝克肌营养不良症：一种不寻常的表现。
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本文引用的文献
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Clinical features and classification of the muscular dystrophies.肌营养不良症的临床特征与分类
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Myoglobinaemia in Duchenne muscular dystrophy patients and carriers: A new adjunct to carrier detection.
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