Charcot-Marie-Tooth Disease, Axonal, Type 2k (CMT2K)

腓骨肌萎缩症轴索型2K型(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Axonal Type 2k

Autosomal Recessive Charcot-Marie-Tooth Disease with Hoarseness

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

Autosomal Recessive Axonal Cmt4c4

Arcmt2k

Cmt2k

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

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

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2k

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2k

Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k

Charcot-Marie-Tooth Neuropathy Axonal Type 2k

Charcot-Marie-Tooth Disease Neuronal Type 2k

Charcot-Marie-Tooth Disease, Axonal, 2k

Charcot-Marie-Tooth Neuropathy Type 2k

Charcot-Marie-Tooth Disease, Type 2k

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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2k，也称为Charcot-Marie-Tooth病轴突型2k，与神经病、先天性脱髓鞘1型、常染色体隐性遗传和Charcot-Marie-Tooth病4a有关。与Charcot-Marie-Tooth病，轴突型2k有关的重要基因是GDAP1（神经节苷脂诱导分化相关蛋白1），其相关通路/超级通路包括调节CFTR活性（正常和CF）。相关组织包括骨骼肌和皮肤，相关表型为骨骼肌萎缩和下肢近端肌肉无力。

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