Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family with Myotonia Congenita
Journal of the Korean Neurological Association
;
: 220-223, 2016.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Relaxation
/
Canaux chlorure
/
Muscles squelettiques
/
Maladies génétiques congénitales
/
Myotonie
/
Myotonie congénitale
Limites du sujet:
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
2016
Type:
Article
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