X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features
Journal of the Korean Neurological Association
;
: 108-112, 2014.
Artigo
em Coreano
| WPRIM
| ID: wpr-91984
ABSTRACT
Charcot-Marie-Tooth X type 1 (CMTX1) is caused by mutations in the connexin 32 gene (Cx32) on the X chromosome. Electrophysiologically, CMTX1 is usually associated with intermediate slowing of conduction velocities and severe impairments in male patients. In addition, patients with CMTX1 rarely present conduction block and temporal dispersion, which are characteristic findings in acquired demyelinating neuropathy. We report herein, for the first time in Korea, two patients with Cx32 mutations who exhibited unusual electrophysiological findings.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cromossomo X
/
Doença de Charcot-Marie-Tooth
/
Coreia (Geográfico)
Limite:
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2014
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS