Charcot-Marie-Tooth Disease, Dominant Intermediate B (CMTDIB)

常染色体显性腓骨肌萎缩症中间型B(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Dominant Intermediate B

Cmtdib

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m

Di-Cmtb

Cmtdi1

Charcot-Marie-Tooth Neuropathy Dominant Intermediate B

Cmt2m

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B

Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B

Charcot-Marie-Tooth Neuropathy Axonal Type 2m

Charcot-Marie-Tooth Disease, Axonal, Type 2m

Charcot-Marie-Tooth Disease, Axonal Type 2m

Charcot-Marie-Tooth Disease Axonal Type 2m

Charcot-Marie-Tooth Disease, Axonal, 2m

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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，显性中间B型，也称为Charcot-Marie-Tooth病显性中间B型，与远端遗传性运动神经病2b型和Charcot-Marie-Tooth病轴突型2n型有关。Charcot-Marie-Tooth病，显性中间B型的一个重要相关基因是DNM2（Dynamin 2），其相关通路/超级通路包括囊泡介导的运输和甘油磷脂生物合成。相关组织包括骨骼肌和周围神经，相关表型为节段性周围脱髓鞘和远端肌肉无力。

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