Charcot-Marie-Tooth Disease, Axonal, Type 2x (CMT2X)

轴索型腓骨肌萎缩症2X型(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Axonal Type 2x

Cmt2x

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

Charcot-Marie-Tooth Neuropathy, Type 2x

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 Due to Spg11 Mutation

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

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2x

Autosomal Recessive Charcot Marie Tooth Disease Type 2x

Charcot-Marie-Tooth Disease, Axonal, 2x

Charcot-Marie-Tooth Neuropathy Type 2x

Arcmt2x

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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 Disease, Axonal, Type 2x，也被称为Charcot-Marie-Tooth disease axonal type 2x。与Charcot-Marie-Tooth Disease, Axonal, Type 2x相关的基因是SPG11（SPG11 Vesicle Trafficking Associated, Spatacsin）。相关组织包括周围神经，相关表型为远端下肢肌肉无力和足弓。

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