A Family with A Missense Mutation in the SCN5A Gene
Korean Circulation Journal
;
: 150-154, 2003.
Article
Dans Coréen
| WPRIM
| ID: wpr-214876
ABSTRACT
Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST-segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations in the cardiac sodium channel gene, SCN5A, and to the best of our knowledge, there has been no report of this mutation in Korea. Three members of a family were heterozygous for a G to T substitution at the nucleotide position 5851 in exon 28 of the SCN5A gene. This nucleotide alteration makes a missense mutation, leading to a valine to leucine substitution (V1951L), in the carboxy terminal region of the sodium channel a subunit. We report here a missense mutation in a Korean family with Brugada-type electrocardiogram.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Valine
/
Fibrillation ventriculaire
/
Bloc de branche
/
Canaux sodiques
/
Exons
/
Mutation faux-sens
/
Électrocardiographie
/
Syndrome de Brugada
/
Corée
/
Leucine
Limites du sujet:
Humains
Pays comme sujet:
Asie
langue:
Coréen
Texte intégral:
Korean Circulation Journal
Année:
2003
Type:
Article
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