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中文Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 (CMTX2)
Alias:
Charcot-Marie-Tooth Disease X-Linked Recessive 2
Cmtx2
X-Linked Charcot-Marie-Tooth Disease Type 2
Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive
Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2
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Charcot-Marie-Tooth病，X连锁隐性型2，也称为Charcot-Marie-Tooth病X连锁隐性型2，与Charcot-Marie-Tooth病和遗传性感觉自主神经病，类型IC有关。与Charcot-Marie-Tooth病，X连锁隐性型2相关的基因是CMTX2（Charcot-Marie-Tooth神经病，X连锁2（隐性）），其相关通路/超级通路包括缺陷的EXT1导致外生骨瘤1，TRPS2和CHDS和11p11.2拷贝数变异综合征。相关表型为步态障碍和无反射。
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