A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient.
- Author:
Byung Ok CHOI
1
;
Ki Wha CHUNG
;
Seung Min KIM
;
Kee Duk PARK
;
Mi Sun LEE
;
Sang Hee SHIN
;
Jiyong LEE
;
Il Nam SUNWOO
Author Information
1. Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Charcot-Marie-Tooth disease;
Cx32;
EGR2;
Mutation
- MeSH:
Charcot-Marie-Tooth Disease;
Humans;
Parents;
Phenotype;
Siblings
- From:Journal of the Korean Neurological Association
2004;22(1):80-83
- CountryRepublic of Korea
- Language:Korean
-
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.
