Molecular diagnosis of inheritable neuromuscular disorders. Part I: Genetic determinants of inherited disease and their laboratory detection

被引：2

作者：

Greenberg, SA ^{[1
]}

Walsh, RJ ^{[1
]}

机构：

[1] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Neurol,Div Neuromuscular Dis, Boston, MA 02115 USA

来源：

MUSCLE & NERVE | 2005年 / 31卷 / 04期

关键词：

genetics; genetic testing; myopathy; neuromuscular disease; neuropathy;

D O I：

10.1002/mus.20278

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Understanding of the genetic basis of inheritable neuromuscular disorders has grown rapidly over the last decade, resulting in improved classification and understanding of their pathogenesis. A consequence of these advances has been the development of genetic tests of blood specimens for the diagnosis of many of these diseases. For many patients, these blood tests have eliminated the need for other more invasive diagnostic tests such as muscle or nerve biopsy, and for some patients, reduced exposure to immunosuppressive medication and its complications. The first part of this review focuses on the nature of genetic disorders, the laboratory methods used in the performance of genetic tests, and general practical aspects of their use and interpretation. The second part discusses the applicability of these tests to the range of neuromuscular disorders.

引用

页码：418 / 430

页数：13

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