축삭형 신경병증 소견을 보이고 connexin32 유전자 변이가 확인된 Charcot-Marie-Tooth X환자

Abstract

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