1.
Journal of the Korean Neurological Association
;
: 220-223, 2016.
Article
in Korean
| WPRIM
| ID: wpr-65864
ABSTRACT
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.
Subject(s)
Humans , Chloride Channels , Genetic Diseases, Inborn , Muscle, Skeletal , Myotonia Congenita , Myotonia , Relaxation
2.
Journal of the Korean Neurological Association
;
: 347-349, 2012.
Article
in Korean
| WPRIM
| ID: wpr-123181
ABSTRACT
No abstract available.
Subject(s)
Achondroplasia , Continuous Positive Airway Pressure , Sleep Apnea, Obstructive
3.
Korean Journal of Obstetrics and Gynecology
;
: 3010-3016, 1993.
Article
in Korean
| WPRIM
| ID: wpr-52206
ABSTRACT
No abstract available.
Subject(s)
Female , Pregnancy , Obstetric Labor, Premature , Ritodrine
4.
Korean Journal of Otolaryngology - Head and Neck Surgery
;
: 258-263, 1993.
Article
in Korean
| WPRIM
| ID: wpr-645828