PERIPHERAL NEUROPATHIES Molecular diagnosis of Charcot-Marie-Tooth disease

被引：9

作者：

Berciano, Jose ^{[1
]}

机构：

[1] Univ Cantabria, Univ Hosp Marques de Valdecilla IFIMAV, Ctr Invest Biomed Red Enfermedades Neurodegenerat, E-39005 Santander, Spain

来源：

NATURE REVIEWS NEUROLOGY | 2011年 / 7卷 / 06期

关键词：

D O I：

10.1038/nrneurol.2011.72

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Charcot-Marie-Tooth disease (CMT) is a hereditary neuropathy attributed to mutations in more than 30 different genes. A recent study identified the causative mutation in 67% of 787 screened patients with CMT, and the findings raise important issues concerning genetic testing for CMT.

引用

页码：305 / 306

页数：2

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