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肌强直性营养不良 2 型的最新进展。

Recent advances in myotonic dystrophy type 2.

机构信息

Department of Neurology, The Neurological Institute, Columbia University Medical Center, 710 West 168 St., New York, NY, 10032, USA,

出版信息

Curr Neurol Neurosci Rep. 2014 Feb;14(2):429. doi: 10.1007/s11910-013-0429-1.

Abstract

Myotonic dystrophy is the commonest adult muscular dystrophy. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are often discussed jointly, and although they share many clinical and molecular features, differences do exist. Historically, more is known about DM1 than about DM2. The literature in the field of myotonic dystrophy is broad, with advances in our understanding of DM2. This article reviews recent developments in DM2 with respect to diagnosis, systemic features, and molecular mechanisms of the disease.

摘要

肌强直性营养不良是最常见的成人肌肉营养不良症。肌强直性营养不良 1 型(DM1)和肌强直性营养不良 2 型(DM2)常被一起讨论,虽然它们具有许多临床和分子特征,但也存在差异。从历史上看,人们对 DM1 的了解多于 DM2。肌强直性营养不良领域的文献广泛,对 DM2 的认识也在不断进步。本文综述了 DM2 在诊断、系统特征和疾病分子机制方面的最新进展。

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