| Charcot-Marie-Tooth X Patient with an Axonal Neuropathy and a Connexin32 Gene Mutation |
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| Abstract |
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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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