X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene
Journal of the Korean Neurological Association
; : 76-79, 2004.
Article
en Ko
| WPRIM
| ID: wpr-60907
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
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Base de datos:
WPRIM
Asunto principal:
Fenotipo
/
Neuropatía Hereditaria Motora y Sensorial
/
Mutación Missense
/
Genes Ligados a X
Límite:
Female
/
Humans
/
Male
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Año:
2004
Tipo del documento:
Article