周围神经病：Charcot-Marie-Tooth 病的分子诊断。
Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease.
机构信息
Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Santander, Spain.
出版信息
Nat Rev Neurol. 2011 May 17;7(6):305-6. doi: 10.1038/nrneurol.2011.72.
PMID:21587243
Abstract
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.
摘要
Charcot–Marie–Tooth 病（CMT）是一种遗传性周围神经病，归因于 30 多种不同基因的突变。最近的一项研究在 787 例 CMT 筛查患者中确定了 67%的致病突变，这些发现提出了有关 CMT 基因检测的重要问题。
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