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Article

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.

Circulation - 25 Oct 2005

Brink Paul A, Crotti Lia, Corfield Valerie, Goosen Althea, Durrheim Glenda, Hedley Paula, Heradien Marshall, Geldenhuys Gerhard, Vanoli Emilio, Bacchini Sara, Spazzolini Carla, Lundquist Andrew L, Roden Dan M, George Alfred L, Schwartz Peter J

Abstract excerpt

BACKGROUND: In the congenital long-QT syndrome (LQTS), there can be a marked phenotypic heterogeneity. Founder effects, by which many individuals share a mutation identical by descent, represent a powerful tool to further understand the underlying mechanisms and to predict the natural history of mutation-associated effects. We are investigating one such founder effect, originating in South Africa in approximately...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

Source

Identifiers

PMID: 16246960
DOI: 10.1161/CIRCULATIONAHA.105.572453

Genes

KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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