Charcot-Marie-Tooth Disease, Axonal, Type 2h (CMT2H)

Charcot-Marie-Tooth病，轴突型2h亚型(来自翻译大模型)

别称:

Charcot-Marie-Tooth Disease Axonal Type 2h

Cmt2h

Axonal Charcot-Marie-Tooth Disease with Pyramidal Involvement

Charcot-Marie-Tooth Disease Type 2h

Autosomal Recessive Axonal Cmt4c2

Ar-Cmt2c

Charcot-Marie-Tooth Neuropathy, Axonal, with Pyramidal Features, Autosomal Recessive

Charcot-Marie-Tooth Disease, Axonal, with Pyramidal Features, Autosomal Recessive

Autosomal Recessive Axonal Charcot-Marie-Tooth Neuropathy with Pyramidal Features

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Pyramidal Features

Charcot-Marie-Tooth Disease, Type 2h

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Charcot-Marie-Tooth病，轴突型2h，也称为Charcot-Marie-Tooth病轴突型2h，与牙病和Charcot-Marie-Tooth病有关。与Charcot-Marie-Tooth病，轴突型2h相关的基因是CMT2H（Charcot-Marie-Tooth病，轴突型2h），其相关通路/超通路包括参与CMT神经病的细胞内运输蛋白质。相关表型为远端肌肉无力和足弓。

查看原文参与反馈