Genetic profile of Chinese patients with Charcot-Marie-Tooth disease

作     者：Zhi-Yuan Ouyang You Chen Da-Qiang Qin Zhi-Dong Cen Xiao-Sheng Zheng Fei Xie Si Chen Hao-Tian Wang De-Hao Yang Xin-Hui Chen Le-Bo Wang Bao-Rong Zhang Wei Luo Ouyang Zhi-Yuan;Chen You;Qin Da-Qiang;Cen Zhi-Dong;Zheng Xiao-Sheng;Xie Fei;Chen Si;Wang Hao-Tian;Yang De-Hao;Chen Xin-Hui;Wang Le-Bo;Zhang Bao-Rong;Luo Wei

作者机构：Department of NeurologyThe Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Cancer InstituteKey Laboratory of Cancer Prevention and InterventionChina National Ministry of EducationThe Second Affiliated HospitalZhejiang University School of MedicineHangzhouZhejiang 310009China Department of NeurologyAffiliated Hospital of Jiangsu UniversityZhenjiangJiangsu 212001China Department of Intensive Care UnitZhejiang HospitalHangzhouZhejiang 310030China Department of NeurologySir Run Run Shaw HospitalZhejiang University School of MedicineHangzhouZhejiang 310016China Chu Kochen Honors CollegeZhejiang UniversityHangzhouZhejiang 310058China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2020年第133卷第21期

页      面：2633-2634页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：grants from the Science and Technology Department of Zhejiang Province(No.2019C03017) the National Natural Science Foundation of China(No.30672264,No.81870895,No.81600850,No.81571089,and No.81371266) 

主　　题：Marie patients impaired 

摘      要：To the Editor:Charcot-Marie-Tooth disease(CMT)encompasses a genetically heterogeneous group of inherited neuropathies,characterized by progressive distal muscle weakness and atrophy,sensory deficits,impaired tendon reflexes,and foot deformities.[1]To date,more than 80 causative genes have been identified in CMT patients,associated with either autosomal dominant or recessive inheritance,or X-linked *** traditional classification of CMT was based on peripheral neuropathy type,as determined by nerve conduction *** more causative genes were identified and the overlap of neuropathy phenotypes became apparent,the traditional classification system proved unwieldy and ***,CMT needs to be distinguished from several entities including systemic disorders with neuropathy and other types of hereditary *** clinical practice,overlap of phenotypes can present a major challenge in reaching the correct *** study aimed to investigate the genetic profile in a cohort of Chinese CMT patients and evaluate the role of genetic testing in the diagnosis and subtyping of CMT.