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KMID : 0860920040060010062
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2004 Volume.6 No. 1 p.62 ~ p.66
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Charcot-Marie-Tooth X Patient with an Axonal Neuropathy and a Connexin32 Gene Mutation
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Choi Yoon-Jung
Chung Ki-Wha
Park Kee-Duk
Kim Won-Ki
Kim Seung-Min
Sunwoo Il-Nam
Choi Byung-Ok
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Abstract
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Charcot-Marie-Tooth (CMT) disease is a clinically and genetically geterogeneous disorder of the perpheral nervous system. Mutations in the gap junction gene, connexine32 (Cx32), cause the X-linked from of Charcot-Marie-Tooth (CMTX) disease. Axonal loss, rather than demyelinating, is a prominent feature of the neuropathy in CMTX patient. However, There is still confusion as to whether CMTX is ptimatily an axonal neuropathy or a demyelinating one. We report a patient confirming a mutation in the Cx32 gene (Aeg164Gln) who had an axonal neuropathy
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KEYWORD
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CMTX, Cx32, Neuropathy
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