1.
Journal of the Korean Neurological Association
; : 220-223, 2016.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-65864
RESUMO
Myotonia congenita (MC) is a hereditary disease of the chloride channels of skeletal muscle caused by mutation of CLCN1. It characteristically manifests as delayed relaxation of the skeletal muscle or myotonia. It has a wide phenotypic variability, ranging from asymptomatic to severe disability. However, it is uncommon for a phenotypic difference to appear within a family. We report the first Korean family with the p.A313T mutation exhibiting marked phenotypic variability.
Assuntos
Humanos , Canais de Cloreto , Doenças Genéticas Inatas , Músculo Esquelético , Miotonia Congênita , Miotonia , Relaxamento
2.
Journal of the Korean Neurological Association
; : 347-349, 2012.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-123181
RESUMO
No abstract available.
Assuntos
Acondroplasia , Pressão Positiva Contínua nas Vias Aéreas , Apneia Obstrutiva do Sono
3.
Korean Journal of Obstetrics and Gynecology
; : 3010-3016, 1993.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-52206
RESUMO
No abstract available.
Assuntos
Feminino , Gravidez , Trabalho de Parto Prematuro , Ritodrina
4.
Korean Journal of Otolaryngology - Head and Neck Surgery
; : 258-263, 1993.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-645828
