肌营养不良蛋白分析在肌营养不良症诊断中的应用
Dystrophin analysis in the diagnosis of muscular dystrophy.
作者信息
Norman A M, Hughes H E, Gardner-Medwin D, Nicholson L V
机构信息
Institute of Medical Genetics, University Hospital of Wales, Cardiff.
出版信息
Arch Dis Child. 1989 Oct;64(10):1501-3. doi: 10.1136/adc.64.10.1501.
Abstract
We present a family in which the differential diagnosis between X linked Duchenne muscular dystrophy and autosomal recessive Duchenne-like muscular dystrophy was resolved in favour of the latter by analysis of dystrophin, which is the protein product of the Duchenne muscular dystrophy locus.
摘要
我们报告了一个家系，通过对肌营养不良蛋白（杜兴氏肌营养不良症基因座的蛋白质产物）的分析，解决了X连锁杜兴氏肌营养不良症和常染色体隐性杜兴氏样肌营养不良症之间的鉴别诊断问题，结果支持后者。
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