J Korean Neurol Assoc.
2004 Feb;22(1):76-79.
X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene
- Affiliations
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- 1Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
- 2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
- 3Department 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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