Charcot-Marie-Tooth Disease, Type 4k (CMT4K)

腓骨肌萎缩症4K型(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Type 4k

Cmt4k

Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

Surf1-Related Charcot-Marie-Tooth Disease Type 4

Surf1-Related Cmt4

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

Charcot-Marie-Tooth Neuropathy, Type 4k

Charcot-Marie-Tooth Disease 4k

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4型，也称为Charcot-Marie-Tooth病4型，与线粒体复合物V缺乏、线粒体类型1和孤立的复合物III缺乏有关。与Charcot-Marie-Tooth病4型相关的基因是SURF1（SURF1细胞色素C氧化酶装配因子），其相关通路/超级通路包括代谢和呼吸电子传递、化学耦合ATP合成和热能通过解耦联蛋白产生。相关组织包括大脑和骨骼肌，相关表型为共济失调和听力障碍。

查看原文参与反馈