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J Korean Assoc EMG Electrodiagn Med 2004;6(1):62-66.
Published online May 10, 2004.
Charcot-Marie-Tooth X Patient with an Axonal Neuropathy and a Connexin32 Gene Mutation
Abstract
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system. Mutations in the gap junction gene, connexin32 (Cx32), cause the X-linked form 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 primarily an axonal neuropathy or a demyelinating one. We report a patient confirming a mutation in the Cx32 gene (Arg164Gln) who had an axonal neuropathy.
Key Words: CMTX, Cx32, Neuropathy
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