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J Korean Neurol Assoc. 2004 Feb;22(1):76-79. Korean. Case Report.
Choi BO , Sunwoo IN , Park KD , Kim YJ , Choi KG , Lee MS , Hwang JH , Chung KW .
Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
Department of Biological Science, Kongju National University, Gongju, Korea. kwchung@kongju.ac.kr
Abstract

X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene.

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