Charcot-Marie-Tooth Disease, Axonal, Type 2b2 (CMT2B2)

腓骨肌萎缩症2B2型(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Type 2b2

Charcot-Marie-Tooth Disease, Type 2b2

Arcmt2b

Cmt2b2

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2

Charcot-Marie-Tooth Disease Neuronal Type 2b2

Charcot-Marie-Tooth Neuropathy Type 2b2

Autosomal Recessive Axonal Cmt4c3

Ar-Cmt2b2

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2

Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2

Charcot-Marie-Tooth Disease, Neuronal, Type 2b2

Charcot-Marie-Tooth Disease Axonal Type 2b2

Charcot-Marie-Tooth Neuropathy, Type 2b2

Charcot-Marie-Tooth Disease, Axonal, 2b2

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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，轴突型2b2，也称为Charcot-Marie-Tooth病2b2，与感觉周围神经病和遗传性感觉神经病有关。与Charcot-Marie-Tooth病，轴突型2b2有关的重要基因是PNKP（多核苷酸激酶3'-磷酸酶），其相关通路/超级通路包括DNA损伤_NHEJ机制的DSB修复和参与CMT神经病的细胞内运输蛋白质。附属组织包括眼睛，相关表型为无反应性和低反应性。

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