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肌营养不良症:从基因到发病机制

Muscular dystrophies: genes to pathogenesis.

作者信息

Dalkilic Isin, Kunkel Louis M

机构信息

Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA.

出版信息

Curr Opin Genet Dev. 2003 Jun;13(3):231-8. doi: 10.1016/s0959-437x(03)00048-0.

Abstract

Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. Nearly 30 genes are known to give rise to various forms of muscular dystrophy, which differ in age of onset, severity, and muscle groups affected. The number of genes identified increases each year, adding to our understanding as well as revealing the overall complexity of the pathogenesis of these diseases.

摘要

肌肉萎缩症是一组由基因异质性导致的退行性肌肉疾病。已知近30种基因会引发各种形式的肌肉萎缩症,它们在发病年龄、严重程度和受影响的肌肉群方面存在差异。每年鉴定出的基因数量都在增加,这不仅增进了我们的了解,也揭示了这些疾病发病机制的整体复杂性。

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