杜兴氏肌营养不良症：肌肉细胞表面肌营养不良蛋白缺乏。

Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.

作者信息

Bonilla E, Samitt C E, Miranda A F, Hays A P, Salviati G, DiMauro S, Kunkel L M, Hoffman E P, Rowland L P

机构信息

Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, New York.

出版信息

Cell. 1988 Aug 12;54(4):447-52. doi: 10.1016/0092-8674(88)90065-7.

DOI:10.1016/0092-8674(88)90065-7

PMID:3042151

Abstract

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.

摘要

肌营养不良蛋白是杜兴氏肌营养不良症（DMD）中发生改变的基因产物。我们使用抗肌营养不良蛋白的多克隆抗体，通过免疫组织化学方法在人体肌肉中定位该蛋白。在正常个体以及患有除DMD之外其他肌病的患者中，肌营养不良蛋白定位于肌纤维的肌膜。在DMD患者中，该蛋白缺失或明显缺乏。肌营养不良蛋白在肌膜的定位与其他证据一致，即DMD患者的肌肉表面膜存在结构和功能异常。