Genetics and molecular pathogenesis of the myotonic dystrophies

被引：28

作者：

Day J.W. ^{[1
]}

Ranum L.P.W. ^{[1
]}

机构：

[1] Department of Neurology, Institute of Human Genetics, Univ. of Minnesota Sch. of Medicine, Minneapolis, MN 55455

来源：

Current Neurology and Neuroscience Reports | 2005年 / 5卷 / 1期

关键词：

Repeat Expansion; Myotonic Dystrophy; Myotonic Dystrophy Type; Dystrophia Myotonica Protein Kinase; Cellular Nucleic Acid Binding Protein;

D O I：

10.1007/s11910-005-0024-1

中图分类号：

学科分类号：

摘要：

Pathogenic repeat expansions were initially identified as causing either a loss of gene product, such as in fragile X mental retardation, or an expansion of a polyglutamine region of a protein, as was first shown in spinobulbar muscular atrophy (Kennedy's disease). The pathogenic effect of the repeat expansion in myotonic dystrophy type 1, however, has been controversial because it does not encode a protein but nonetheless results in a highly penetrant dominant disease. Clinical and molecular characterization of myotonic dystrophy types 1 and 2 have now demonstrated a novel disease mechanism involving pathogenic effects of repeat expansions that are expressed in RNA but are not translated into protein. Copyright © 2005 by Current Science Inc.

引用

页码：55 / 60

页数：5

共 57 条

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