Two Families of Andersen's Syndrome with Cardiac Arrhythmia, Periodic Paralysis, and KCNJ2 Gene Mutations
Journal of the Korean Neurological Association
;
: 265-269, 2006.
Article
Dans Coréen
| WPRIM
| ID: wpr-9069
ABSTRACT
Andersen's syndrome is a rare autosomal dominant disorder characterized by periodic paralysis, dysmorphic features and cardiac arrhythmias. This syndrome is known to be a type of potassium channelopathies with a mutation in the KCNJ2 (Kir2.1) gene. Here, we present two families with genetically confirmed Andersen's syndrome through clinical and electrophysiological findings. They showed all features of the triad, and one of them had a novel mutation c.307G>A (Met307Ile).
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Paralysie
/
Troubles du rythme cardiaque
/
Potassium
/
Épreuve d'effort
/
Canalopathies
Limites du sujet:
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
2006
Type:
Article
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