X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene.
- Author:
Byung Ok CHOI
1
;
Il Nam SUNWOO
;
Kee Duk PARK
;
Yong Jae KIM
;
Kyoung Gyu CHOI
;
Mi Sun LEE
;
Jung Hee HWANG
;
Ki Wha CHUNG
Author Information
1. Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
X-linked Charcot-Marie-Tooth (CMTX);
Connexin 32;
Missense mutation
- MeSH:
Female;
Genes, X-Linked;
Hereditary Sensory and Motor Neuropathy;
Humans;
Male;
Mutation, Missense*;
Phenotype
- From:Journal of the Korean Neurological Association
2004;22(1):76-79
- CountryRepublic of Korea
- Language:Korean
-
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.
