机构：[1]Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100070, 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
The X-linked form of Charcot-Marie-Tooth disease typel (CMTX1) is the second most common hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene. Here, we report the clinical and genetic features of six unrelated Chinese patients with CMTX1, which were identified by genetic analysis. Among the 6 identified mutations, 3 were previously unknown (c.31A > T, c.42 C > G and c.423 del C). The six patients showed typical signs of CMT with a median age of onset of 16.5 years (range: 13-30). Sensorineural hearing loss was confirmed in the patient with the c.423 del C mutation. White matter lesions on brain magnetic resonance imaging (MRI) were observed in two patients. The three newly identified GJB1 mutations expand the clinical and mutational spectrum of CMTX1.
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 100070, 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 100070, China
推荐引用方式(GB/T 7714)：
Chen Bin,Niu Songtao,Wang Xingao,et al.Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease[J].CLINICAL NEUROLOGY AND NEUROSURGERY.2019,184:-.doi:10.1016/j.clineuro.2019.105430.
APA：
Chen, Bin,Niu, Songtao,Wang, Xingao,Yu, Xueying,Tang, Hefei...&Zhang, Zaiqiang.(2019).Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.CLINICAL NEUROLOGY AND NEUROSURGERY,184,
MLA：
Chen, Bin,et al."Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease".CLINICAL NEUROLOGY AND NEUROSURGERY 184.(2019):-
