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中文Charcot-Marie-Tooth Disease, Demyelinating, Type 1h (CMT1H)
Alias:
Neuropathy, Hereditary, with or Without Age-Related Macular Degeneration
Hereditary Motor and Sensory Neuropathy, Ih
Charcot-Marie-Tooth Neuropathy, Type 1h
Hnarmd
Cmt1h
Charcot-Marie-Tooth Disease, Demyelinating, Iia 1h
Charcot-Marie-Tooth Disease, Demyelinating, 1h
Macular Degeneration, Age-Related, 3
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Charcot-Marie-Tooth病，脱髓性，1型h，也称为遗传性神经病变，伴有或不伴有年龄相关性黄斑变性，与年龄相关性黄斑变性3有关。与Charcot-Marie-Tooth病，脱髓性，1型h相关的重要基因是FBLN5（纤维蛋白5）。附属组织包括皮肤，相关表型为远端感觉障碍和远端下肢肌肉无力
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