机构：[1]Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100050, China重点科室诊疗科室神经病学中心神经病学中心首都医科大学附属天坛医院
Charcot-Marie-Tooth disease 4D (CMT4D) is characterized by severe peripheral neuropathy and deafness. It is caused by mutations in the N-myc downstream-regulated gene 1 (NDRG1). We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. The patient presented with a 15-year-long history of progressive limb weakness accompanied by hearing loss and dysarthria. There was abnormal differentiation and increased interpeak latencies in brainstem auditory evoked potentials. Compound muscle action potentials (CMAP) of the peripheral nerves were not elicited in distal segments, while prolonged distal latencies and decreased CMAP were present in proximal nerves. A mild enlargement of the lateral ventricles showed in brain magnetic resonance imaging studies. Q185X of NDRG1 is a novel mutation with CMT4D, which are demonstrated in Asian population. Q185X of the NDRG1 expands the clinical and mutational spectrum of CMT4D. (C) 2018 Elsevier Ltd. All rights reserved.
第一作者机构：[1]Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100050, China
通讯作者：
通讯机构：[1]Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100050, China
推荐引用方式(GB/T 7714)：
Bin Chen,Songtao Niu,Na Chen,et al.A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D[J].JOURNAL OF CLINICAL NEUROSCIENCE.2018,53:231-234.doi:10.1016/j.jocn.2018.04.024.
APA：
Bin Chen,Songtao Niu,Na Chen,Hua Pan,Xingao Wang&Zaiqiang Zhang.(2018).A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D.JOURNAL OF CLINICAL NEUROSCIENCE,53,
MLA：
Bin Chen,et al."A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D".JOURNAL OF CLINICAL NEUROSCIENCE 53.(2018):231-234
