Phenotypic Variability and Unusual Clinical Severity of Congenital Long-QT Syndrome in a Founder Population | Zendy

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

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Phenotypic Variability and Unusual Clinical Severity of Congenital Long-QT Syndrome in a Founder Population

Author(s) -

Paul A. Brink,

Lia Crotti,

Valerie A. Corfield,

Althea Goosen,

Glenda Durrheim,

Paula L. Hedley,

Marshall Heradien,

G. Geldenhuys,

Emilio Vanoli,

Sara Bacchini,

Carla Spazzolini,

Andrew L. Lundquist,

Dan M. Roden,

Alfred L. George,

Peter J. Schwartz

Publication year - 2005

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.105.572453

Subject(s) - long qt syndrome , medicine , founder effect , mutation , population , phenotype , qt interval , genetics , genotype , biology , gene , haplotype , environmental health

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 ad 1700 and segregating the same KCNQ1 mutation (A341V).

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