神经病学遗传学。
Genetics of neuropathies.
机构信息
Department of Neurology, Wayne State University, Detroit, Michigan, USA.
出版信息
Semin Neurol. 2011 Nov;31(5):494-505. doi: 10.1055/s-0031-1299788. Epub 2012 Jan 21.
PMID:22266887
Abstract
Charcot-Marie-Tooth disease (CMT) encompasses the heritable motor and sensory neuropathies that comprise most of the inherited peripheral neuropathies. Due to the great genetic heterogeneity of the condition, it can be difficult to determine what type of CMT a person has. The major phenotypic features of the CMT subtypes are delineated, as well as recommendations for focused genetic testing.
摘要
Charcot-Marie-Tooth 病（CMT）包括遗传性运动和感觉神经病，这些神经病构成了大多数遗传性周围神经病。由于该病症具有很大的遗传异质性，因此很难确定一个人患有哪种类型的 CMT。本文阐述了 CMT 亚型的主要表型特征，并提出了针对特定基因检测的建议。
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