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X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
Journal of Genetic Medicine
www.e-kjgm.org X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not fulfill the criteria of demyelination or axonopathy. We describe a 37-year-old man with progressive bilateral leg weakness since his early teen. He suffered transient right hemiparesis, followed by quadriparesis at 14 years of age. When we examined him at 37 years ofdoi:10.5734/jgm.2018.15.2.107 fatcat:uoa5m4vd6jenffz3ltjo6zloue