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中文Charcot-Marie-Tooth Hereditary Neuropathy (DHMN)
Alias:
Distal Spinal Muscular Atrophy
Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy
Distal Hereditary Motor Neuropathy
Cmt/hmsn
Dhmn
Neuropathy, Motor, Distal, Hereditary
Distal Hereditary Motor Neuropathies
Hereditary Motor/sensory Neuropathy
Spinal Muscular Atrophy Distal
Charcot-Marie-Tooth Disease
Hmsn
Dsma
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Charcot-Marie-Tooth遗传性神经病，也称为远端脊髓性肌萎缩，与远端遗传性运动神经元病类型5和常染色体隐性远端遗传性运动神经元病有关，症状包括背痛、头痛和疼痛。与Charcot-Marie-Tooth遗传性神经病有关的重要基因是IGHMBP2（免疫球蛋白μDNA结合蛋白2），其相关通路/超级通路包括tRNA氨基酰化。在该疾病的背景下，已经提到了叶酸和硫辛酸这两种药物。附属组织包括脊髓和大脑，相关表型为shRNA丰度增加（Z-score>2）和肌肉。
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