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先天性肌病/肌营养不良症。

Congenital myopathies/dystrophies.

作者信息

Riggs Jack E, Bodensteiner John B, Schochet Sydney S

机构信息

Department of Neurology, West Virginia University School of Medicine, Health Sciences Center, One Medical Center Drive, Room G-103, Box 9180, Morgantown, WV 26506-9180, USA.

出版信息

Neurol Clin. 2003 Nov;21(4):779-94; v-vi. doi: 10.1016/s0733-8619(03)00013-6.

Abstract

The congenital myopathies and congenital muscular dystrophies are a group of relatively infrequent neuromuscular disorders. Ultimate understanding of these disorders, however, will undoubtedly shed considerable light on skeletal muscle development and function. Three classical congenital myopathies are central core disease, nemaline myopathy, and centronuclear myopathy. The congenital muscular dystrophies are often distinguished by whether or not they are associated with clinically evident cerebral involvement.

摘要

先天性肌病和先天性肌营养不良是一组相对罕见的神经肌肉疾病。然而,对这些疾病的深入了解无疑将为骨骼肌的发育和功能提供重要线索。三种典型的先天性肌病是中央轴空病、杆状体肌病和中央核性肌病。先天性肌营养不良通常根据是否伴有临床明显的脑部受累来区分。

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