Charcot-Marie-Tooth disease type II with chromosome variation in a family 伴22号染色体异常的腓肌萎缩症Ⅱ型一家系报告
AIM: To perform gene diagnosis in 23 patients with Charcot-Marie-Tooth type 1 ( CMT1) on the basis of molecular level. 目的:从分子水平对23例腓骨肌萎缩症1型(Charcot-Marie-Tooth1A,CMT1)患者进行基因诊断。
Objective To study the clinical, neuro-electrophysiology features of Charcot-Marie-Tooth disease type 1A ( CMT1A) and its gene mutation analysis. 目的观察腓骨肌萎缩症(CMT)1A型的临床、神经电生理特点和疾病基因的突变分析。
Two main modes of inheritance exist: X-linked and autosomal dominant. Clinical, Electrophysiological, Pathological, and Genetic Study in Chinese Charcot-Marie-Tooth Disease Patients with Type 1A and X-linked 本病存在两种主要的遗传方式:X-连锁型和常染色体显性型。中国人群中CMT1A和CMTX的临床、电生理、病理和遗传研究
The study of gene duplication in Charcot-Marie-Tooth disease type 1A patients Charcot-Marie-Tooth病1A型基因重复诊断研究
Clinical and electrophysiological study on charcot-Marie-Tooth disease type 1A with gene duplication 基因重复的进行性腓骨肌萎缩症1A型临床与电生理研究
Clinical and Electrophysiological Analysis of Charcot-Marie-Tooth Disease Type 1 腓骨肌萎缩症1型临床与电生理分析
Clinical, Electrophysiological, Pathological, and Genetic Study in Chinese Charcot-Marie-Tooth Disease Patients with Type 1 A and X-linked 中国人群中CMT1A和CMTX的临床、电生理、病理和遗传研究
Clinical analysis of a Charcot-Marie-Tooth disease type 2F family in china 腓骨肌萎缩症2F型1家系临床分析
Study on the clinic, neuro-electrophysiology of Charcot-Marie-Tooth disease type 1A and its gene mutation analysis 腓骨肌萎缩症1A型的临床、神经电生理和疾病基因突变分析