CHARACTERIZATION OF DYSTROPHIN IN MUSCLE-BIOPSY SPECIMENS FROM PATIENTS WITH DUCHENNES OR BECKERS MUSCULAR-DYSTROPHY
CHARACTERIZATION OF DYSTROPHIN IN MUSCLE-BIOPSY SPECIMENS FROM PATIENTS WITH DUCHENNES OR BECKERS MUSCULAR-DYSTROPHY
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DOI：
10.1056/nejm198805263182104
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发表时间：
1988-05-26
影响因子：
158.5
通讯作者：
KUNKEL, LM
中科院分区：
文献类型：
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作者：
HOFFMAN, EP;FISCHBECK, KH;KUNKEL, LM
蛋白质dystrophin的缺乏最近被证明是杜氏肌营养不良症的可能原因。我们试图确定103例各种神经肌肉疾病患者的肌肉活检标本中肌营养不良蛋白的临床表型和状态之间的关系。我们发现非常低的水平（
A deficiency of the protein dystrophin has recently been shown to be the probable cause of Duchenne''s muscular dystrophy. We sought to determine the relation between the clinical phenotype and the status of dystrophin in muscle-biospy specimens from 103 patients with various neuromuscular disorders. We found very low levels (