1.
Journal of the Korean Neurological Association
;
: 220-223, 2016.
Artículo
en Coreano
| WPRIM
| ID: wpr-65864
RESUMEN
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.