腓骨肌萎缩症

腓骨肌萎缩症属于累及神经轴索和髓鞘的神经遗传病，病理改变以神经轴索的脱髓鞘和变性为主。

CMT is a type of neurogenetic disorders and myelin sheath and the pathologic changes are mainly the demyelination and degeneration of neural axis .

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 study on charcot-Marie-Tooth disease type 1A with gene duplication

进行性腓骨肌萎缩症1A型电生理研究

Electrophysiological study in Charcot - Marie - Tooth disease type 1 A

腓骨肌萎缩症1A型基因重复的检测

Detection of duplication in Charcot - Marie - Tooth disease type 1A

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

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型基因重组热点区和多态性研究

A study of the recombination hotspot and polymorphisms of Charcot Marie Tooth disease type 1A in Chinese patients

腓骨肌萎缩症2F型1家系临床分析

Clinical analysis of a Charcot-Marie-Tooth disease type 2F family in china

腓骨肌萎缩症X1型1个家系的临床、电生理和Connexin32基因突变分析

Clinical , electrophysiological and connexin 32 gene mutation analysis with X-linked dominant Charcot-Marie - Tooth disease

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。

Objective To study the clinical , neuro-electrophysiology features of Charcot-Marie-Tooth disease type 1A ( CMT1A ) and its gene mutation analysis .

目的了解中国人进行性腓骨肌萎缩症（Charcot-Marie-Toothdisease，CMT）连接蛋白32（connexin32，Cx32）基因外显子2的突变情况。

Objective To investigate the characteristics of gene mutations of connexin 32 exon 2 in Charcot Marie Tooth disease in Chinese patients .

本文报告32例腓骨肌萎缩症（PMA）患者的临床及肌电图（EMG）和神经传导速度（NCV）的改变。

Clinical , electromyography ( EMG ) and nerve conduction velocity ( NCV ) features of 32 cases with peroneal muscular atrophy ( PMA ) are reported .

目的探索适合临床应用的检测腓骨肌萎缩症1A型（CMT1A）基因重复的有效方法。

Objective To study the routine methods that can be easily used in clinics to detect the Charcot Marie Tooth ( CMT ) disease gene duplication .

结论HSP22基因突变在中国人的腓骨肌萎缩症患者中少见，突变率为0.87%（1/115）。

Conclusion The rate of HSP22 gene mutation in Chinese patients with CMT is as low as0.87 % ( 1 / 115 ) .

[背景与目的]腓骨肌萎缩症（Charcot-Marie-Tooth，CMT）亦称为遗传性运动感觉神经病，具有明显的遗传异质性，临床主要特征是四肢远端进行性的肌无力、肌萎缩以及感觉障碍。

[ Background and objective ] Charcot-Marie-Tooth ( CMT ) disease , also known as hereditary motor and sensory neuropathies ( HMSN ), is genetically heterogeneous and characterized by slowly progressive distal muscle wasting and weakness with sensory loss .

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。

AIM : To perform gene diagnosis in 23 patients with Charcot-Marie-Tooth type 1 ( CMT1 ) on the basis of molecular level .

腓骨肌萎缩症（附三个家系8例患者的临床报告）

Peroneal Muscular Atrophy ( 8 Members in 3 Families Reported )

腓骨肌萎缩症趾侧腹皮瓣的临床应用

Peroneal Muscular Atrophy Clinical application of fibular pulp flap of toe

腓骨肌萎缩症的临床和遗传特点

Clinical and genetic characteristics of Charcot - Marie - Tooth disease

腓骨肌萎缩症患儿周围神经电生理和组织病理学的研究

Peripheral neurophysiological and neuropathological studies on Charcot-Marie-Tooth atrophy disease in children

腓骨肌萎缩症CMTX1型的间隙连接蛋白32基因突变检测

Detection of connexin 32 gene mutation in Xlinked dominant Charcot-Marie-Tooth disease

腓骨肌萎缩症临床和视觉、听觉及躯体感觉诱发电位研究

Visual , Auditory and Somatosensory Pathway Involvement in Charcot-Marie-Tooth Disesae

腓骨肌萎缩症的临床与病理

The clinical and pathologic features of Charcot-Marie - Tooth disease

聚合酶链反应技术在腓骨肌萎缩症基因诊断中的应用

PCR in the gene diagnosis of Charcot - Marie - Tooth disease

腓骨肌萎缩症的临床特点与心肌酶学改变

Clinical manifestations and changes of the serum myocardial enzyme in Charcot-Marie-Tooth disease

腓骨肌萎缩症的临床及电生理研究&附32例报告

Clinical Electrophysiological Studies of Peroneal Muscular Atrophy & Report of 32 Cases

腓骨肌萎缩症患者肌力与神经传导速度的相关性

Correlation between myodynamia and nerve conductive velocity of patients with peroneal muscular atrophy

腓骨肌萎缩症的分子遗传学研究

Molecular genetics of Charcot - Marie - Tooth disease

腓骨肌萎缩症1型临床与电生理分析

Clinical and Electrophysiological Analysis of Charcot-Marie-Tooth Disease Type 1

中国人腓骨肌萎缩症小热休克蛋白27基因突变分析

Mutation analysis of small heat-shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease

伴有脑干听觉诱发电位异常的腓骨肌萎缩症发现连接蛋白32基因新突变

A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing