Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita
Journal of the Korean Neurological Association
;
: 220-223, 2016.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Relajación
/
Canales de Cloruro
/
Músculo Esquelético
/
Enfermedades Genéticas Congénitas
/
Miotonía
/
Miotonía Congénita
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2016
Tipo del documento:
Artículo
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