Muscular dystrophies and the dystrophin-glycoprotein complex

Muscular dystrophies and the dystrophin-glycoprotein complex
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DOI:
10.1097/00019052-199704000-00016
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发表时间:
1997-04-01
影响因子:
4.8
通讯作者:
Campbell, KP
Campbell, KP
中科院分区:
医学2区
文献类型:
--
作者:
Straub, V;Campbell, KP

文献摘要

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为了了解肌营养不良蛋白(Duchenne肌营养不良基因的蛋白产物)的功能,人们提纯了肌营养不良蛋白-糖蛋白复合物。在过去的一年里,这种复合物的几个新成分已经被确定。最近的研究已将与寡聚物复合物相关的肌肉营养不良症的数量扩大到六种遗传上不同的疾病,包括三种新形式的肢带性肌肉营养不良症和一种形式的先天性肌肉营养不良症。
Efforts to understand the function of dystrophin, the protein product for the Duchenne muscular dystrophy gene, resulted in the purification of the dystrophin-glycoprotein complex. Over the past year several novel components of this complex have been identified. Recent studies have extended the number of muscular dystrophies associated with the oligomeric complex to six genetically distinct diseases, including three new forms of limb-girdle muscular dystrophy and one form of congenital muscular dystrophy.