Charcot-Marie-Tooth Disease, Type 4b1 (CMT4B1)

腓骨肌萎缩症4B1型(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Type 4b1

Cmt4b1

Cmt4b

Charcot-Marie-Tooth Neuropathy Type 4b1

Charcot-Marie-Tooth Disease Type 4b

Charcot-Marie-Tooth Disease, Autosomal Recessive, with Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1

Autosomal Recessive Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 4b1

Charcot-Marie-Tooth Disease Autosomal Recessive with Focally Folded Myelin Sheaths 4b1

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Charcot-Marie-Tooth Neuropathy, Type 4b1

Charcot-Marie-Tooth Disease, Type 4b

Charcot-Marie-Tooth Disease 4b1

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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4b型，也称为Charcot-Marie-Tooth病4b型，与遗传性感觉神经病和肌病有关，症状包括面部麻痹。与Charcot-Marie-Tooth病4b型有关的重要基因是MTMR2（肌管蛋白相关蛋白2），其相关通路/超级通路包括代谢和甘油磷脂生物合成。附属组织包括周围神经，相关表型为远端性肌萎缩和脊柱侧弯。

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