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Annals of Medicine Volume 41, 2009 - Issue 3
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Original Article

High prevalence of four long QT syndrome founder mutations in the Finnish population

Annukka Marjamaa Research Program in Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
,
Veikko Salomaa National Public Health Institute, Helsinki, Finland; Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, Finland
,
Christopher Newton-Cheh Broad Institute of Harvard and MIT, Cambridge, MA, USA; Center for Human Genetic Research and Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA
,
Kimmo Porthan Department of Cardiology, University of Helsinki, Helsinki, Finland
,
Antti Reunanen National Public Health Institute, Helsinki, Finland; Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, Finland
,
Hannu Karanko National Public Health Institute, Helsinki, Finland; Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, Finland
,
Antti Jula National Public Health Institute, Helsinki, Finland; Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, Finland
,
Päivi Lahermo Finnish Genome Center, University of Helsinki, Helsinki, Finland
,
Heikki Väänänen Laboratory of Biomedical Engineering, Helsinki University of Technology, Espoo, Finland
,
Lauri Toivonen Department of Cardiology, University of Helsinki, Helsinki, Finland
,
Heikki Swan Department of Cardiology, University of Helsinki, Helsinki, Finland
,
Matti Viitasalo Department of Cardiology, University of Helsinki, Helsinki, Finland
,
Markku S. Nieminen Department of Cardiology, University of Helsinki, Helsinki, Finland
,
Leena Peltonen National Public Health Institute, Helsinki, Finland; Department of Medical Genetics, University of Helsinki, Biomedicum Helsinki, Finland; Wellcome Trust Sanger Institute, Program in Medical and Population Genetics, Hinxton, UK
,
Lasse Oikarinen Department of Cardiology, University of Helsinki, Helsinki, Finland
,
Aarno Palotie Research Program in Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Finnish Genome Center, University of Helsinki, Helsinki, Finland; Wellcome Trust Sanger Institute, Program in Medical and Population Genetics, Hinxton, UK; Department of Clinical Chemistry, University of Helsinki, Helsinki, Finland
&
Kimmo Kontula Research Program in Molecular Medicine, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland; Department of Medicine, University of Helsinki, Helsinki, Finland
, PhD , MD show all
Pages 234-240 | Received 16 Sep 2008, Published online: 08 Jul 2009

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Jørgen K. Kanters, Lasse Skibsbye, Paula L. Hedley, Maja Dembic, Bo Liang, Christian M. Hagen, Ole Eschen, Morten Grunnet, Michael Christiansen & Thomas Jespersen. (2015) Combined gating and trafficking defect in Kv11.1 manifests as a malignant long QT syndrome phenotype in a large Danish p.F29L founder family. Scandinavian Journal of Clinical and Laboratory Investigation 75:8, pages 699-709.
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Annukka M. Lahtinen, Aki S. Havulinna, Peter A. Noseworthy, Antti Jula, Pekka J. Karhunen, Markus Perola, Christopher Newton-Cheh, Veikko Salomaa & Kimmo Kontula. (2013) Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population. Annals of Medicine 45:4, pages 328-335.
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Pertti Jääskeläinen, Tiina Heliö, Katriina Aalto-Setälä, Maija Kaartinen, Erkki Ilveskoski, Liisa Hämäläinen, John Melin, Markku S. Nieminen, Markku Laakso, Johanna Kuusisto, Helena Kervinen, Juha Mustonen, Jukka Juvonen, Mari Niemi, Paavo Uusimaa, Matti Huttunen, Matti Kotila & Mikko Pietilä. (2013) Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population. Annals of Medicine 45:1, pages 85-90.
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Pier Paolo Bassareo, Vassilios Fanos, Melania Puddu, Christian Cadeddu, Marta Balzarini & Giuseppe Mercuro. (2011) Significant QT interval prolongation and long QT in young adult ex-preterm newborns with extremely low birth weight. The Journal of Maternal-Fetal & Neonatal Medicine 24:9, pages 1115-1118.
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