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.
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页码：305 / 306
页数：2
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