A Family with A Missense Mutation in the SCN5A Gene
Korean Circulation Journal
;
: 150-154, 2003.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Valina
/
Fibrilação Ventricular
/
Bloqueio de Ramo
/
Canais de Sódio
/
Éxons
/
Mutação de Sentido Incorreto
/
Eletrocardiografia
/
Síndrome de Brugada
/
Coreia (Geográfico)
/
Leucina
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Korean Circulation Journal
Ano de publicação:
2003
Tipo de documento:
Artigo
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