Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (CMT1A)

Alias:

Charcot-Marie-Tooth Disease Type 1a

Cmt1a

Charcot-Marie-Tooth Disease, Type Ia

Microduplication 17p12

Hmsn1a

Hereditary Motor and Sensory Neuropathy Ia

Charcot-Marie-Tooth Neuropathy, Type 1a

Charcot-Marie-Tooth Neuropathy Type 1a

Charcot-Marie-Tooth Disease, Type 1a

Hmsn Ia

Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1a

Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1a

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy

Charcot-Marie-Tooth Disease Demyelinating Type 1a

Charcot-Marie-Tooth Disease, Demyelinating, 1a

Hereditary Motor and Sensory Neuropathy 1a

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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，脱髓型1a型，也称为Charcot-Marie-Tooth病1a型，与Roussy-Lévy遗传性无反射性肌萎缩症和Charcot-Marie-Tooth病，轴突型2a1型有关。Charcot-Marie-Tooth病，脱髓型1a型的一个重要基因是PMP22（周围髓蛋白22），其相关通路/超通路包括神经嵴分化和参与CMT神经病的细胞内运输蛋白质。Naltrexone和Ethanol已在该疾病的背景下被提及。附属组织包括骨骼肌和扁桃体，相关表型为步态障碍和骨骼肌萎缩。

Related ID：

MALACARDS：CHR627

OMIM：118220

MESH：D002607