期刊
NEUROLOGIC CLINICS
卷 32, 期 3, 页码 705-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ncl.2014.04.011
关键词
Myotonic dystrophy; Electrophysiology; Myopathy; Expanded DNA repeat
资金
- National Institutes of Health Paul Wellstone Muscular Dystrophy Cooperative Research Center [U54NS48843]
Myotonic dystrophy (dystrophia myotonica, DM) is one of the most common lethal monogenic disorders in populations of European descent. DM type 1 was first described over a century ago. More recently, a second form of the disease, DM type 2 was recognized, which results from repeat expansion in a different gene. Both disorders have autosomal dominant inheritance and multisystem features, including myotonic myopathy, cataract, and cardiac conduction disease. This article reviews the clinical presentation and pathophysiology of DM and discusses current management and future potential for developing targeted therapies.
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