Advances in the molecular diagnosis of Charcot-Marie-Tooth disease

Kyproula Christodoulou; Paschalis Nicolaou

文献导航

搜索文章

搜索思路

钛学术文献服务平台 \
学术期刊 \
医药卫生期刊 \
神经病学与精神病学期刊 \
世界神经病学杂志期刊 \
Advances in the molecular diagnosis of Charcot-Marie-Tooth disease

Advances in the molecular diagnosis of Charcot-Marie-Tooth disease

作者：

Kyproula Christodoulou Paschalis Nicolaou

基本信息来源于合作网站，原文需代理用户跳转至来源网站获取

CHARCOT-MARIE-TOOTH

disease

CHARCOT-MARIE-TOOTH

NEUROPATHY

GENETICS

MOLECULAR

DIAGNOSIS

摘要：

Charcot-Marie-Tooth(CMT)disease or hereditary motor and sensory neuropathy is the most common inherited neuromuscular disorder affecting at least 1 in 2500.CMT disease is pathologically and genetically heterogeneous and is characterized by a variable age of onset,slowly progressive weakness and muscle atrophy,starting in the lower limbs and subsequently affecting the upper extremities.Symptoms are usually slowly progressive,especially for the classic and late-onset phenotypes,but can be rather severe in early-onset forms.CMT is grouped into demyelinating,axonal and intermediate forms,based on electrophysiological and pathological findings.The demyelinating types are characterized by severely reduced motor nerve conduction velocities(MNCVs)and mainly by myelin abnormalities.The axonal types are characterized by normal or slightly reduced MNCVs and mainly axonal abnormalities.The intermediate types are characterized by MNCVs between 25 m/s and 45 m/s and they have features of both demyelination and axonopathy.Inheritance can be autosomal dominant,X-linked,or autosomal recessive.Mutations in more than 30 genes have been associated with the different forms of CMT,leading to major advancements in molecular diagnostics of the disease,as well as in the understanding of pathogenetic mechanisms.This editorial aims to provide an account that is practicable and efficient on the current molecular diagnostic procedures for CMT,in correlation with the clinical,pathological and electrophysiological findings.The most frequent causative mutations of CMT will also be outlined.

内容分析

关键词云

关键词热度

相关文献

推荐文献

根据相关规定，获取原文需跳转至原文服务方进行注册认证身份信息

完成下面三个步骤操作后即可获取文献，阅读后请点击下方页面【继续获取】按钮

钛学术文献服务平台

学术出版新技术应用与公共服务实验室出品

原文合作方

获取文献流程

1.访问原文合作方请等待几秒系统会自动跳转至登录页，首次访问请先注册账号，填写基本信息后，点击【注册】

2.注册后进行实名认证，实名认证成功后点击【返回】

3.检查邮箱地址是否正确，若错误或未填写请填写正确邮箱地址，点击【确认支付】完成获取，文献将在1小时内发送至您的邮箱

*若已注册过原文合作方账号的用户，可跳过上述操作，直接登录后获取原文即可

点击【获取原文】按钮，跳转至合作网站。

首次获取需要在合作网站进行注册。

注册并实名认证，认证后点击【返回】按钮。

确认邮箱信息，点击【确认支付】，订单将在一小时内发送至您的邮箱。

* 若已经注册过合作网站账号，请忽略第二、三步，直接登录即可。

期刊分类
期刊（年）
期刊（期）
期刊推荐

中国医学临床医学五官科学内科学医疗保健医药卫生总论基础医学外科学大学学报妇产科学与儿科学特种医学皮肤病学与性病学神经病学与精神病学肿瘤学药学预防医学与卫生学

世界神经病学杂志2017 世界神经病学杂志2016 世界神经病学杂志2015 世界神经病学杂志2014 世界神经病学杂志2013 世界神经病学杂志2012 世界神经病学杂志2011

世界神经病学杂志2013年第4期世界神经病学杂志2013年第3期世界神经病学杂志2013年第2期世界神经病学杂志2013年第1期

按字母查找期刊：

A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
其他

联系合作广告推广: shenyukuan@paperpass.com

篇名	Advances in the molecular diagnosis of Charcot-Marie-Tooth disease
来源期刊	世界神经病学杂志	学科	医学
关键词	CHARCOT-MARIE-TOOTH disease CHARCOT-MARIE-TOOTH NEUROPATHY GENETICS MOLECULAR DIAGNOSIS
年，卷（期）	2013,（3）	所属期刊栏目
研究方向		页码范围	42-55
页数	14页	分类号	R
字数		语种
DOI