J Korean Neurol Assoc.
2004 Feb;22(1):80-83.
A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient
- Affiliations
-
- 1Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
- 2Department of Biological Science, Kongju National University, Gongju, Korea. kwchung@kongju.ac.kr
- 3Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
- 4Department of Neurology, Yonsei University Wonju College of Medicine, Wonju, Korea.
Abstract
- Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene
- A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A
- X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features
- Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 Gene
- X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
