DUCHENNE MUSCULAR-DYSTROPHY - DEFICIENCY OF DYSTROPHIN AT THE MUSCLE-CELL SURFACE
DUCHENNE MUSCULAR-DYSTROPHY - DEFICIENCY OF DYSTROPHIN AT THE MUSCLE-CELL SURFACE
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DOI：
10.1016/0092-8674(88)90065-7
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发表时间：
1988-08-12
期刊：
影响因子：
64.5
通讯作者：
ROWLAND, LP
中科院分区：
文献类型：
--
作者：
BONILLA, E;SAMITT, CE;ROWLAND, LP
Dystrophin是Duchenne型肌营养不良症（DMD）中改变的基因产物。我们使用抗肌营养不良蛋白的多克隆抗体，以免疫化学方法定位人类肌肉中的蛋白质。在正常个体和除DMD以外的肌病患者中，肌营养不良蛋白定位于纤维的肌膜。该蛋白在DMD中不存在或明显缺乏。肌营养不良蛋白的肌膜定位与DMD中肌肉表面膜存在结构和功能异常的其他证据一致。
Dystrophin is the altered gene product in Duchenne muscular dystrophy (DMD). We used polyclonal antibodies against dystrophin to immunohistochemically localize the protein in human muscle. In normal individuals and in patients with myopathies other than DMD, dystrophin was localized to the sarcolemma of the fibers. The protein was absent or markedly deficient in DMD. The sarcolemmal localization of dystrophin is consistent with other evidence that there are structural and functional abnormalities of muscle surface membranes in DMD.