Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing

被引:0
作者
Eva-Lena Stattin
Ida Maria Boström
Annika Winbo
Kristina Cederquist
Jenni Jonasson
Björn-Anders Jonsson
Ulla-Britt Diamant
Steen M Jensen
Annika Rydberg
Anna Norberg
机构
[1] Umeå University,Department of Medical Biosciences, Medical and Clinical Genetics
[2] Umeå University,Department of Clinical Sciences, Paediatrics
[3] Umeå University,Heart Centre and Department of Public Health and Clinical Medicine
来源
BMC Cardiovascular Disorders | / 12卷
关键词
Arrhythmia; Long QT syndrome; Ion-channel; Founder mutation; Variant of unknown significance;
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  • [1] Goldenberg I(2008)Long QT Syndrome Curr Probl Cardiol 33 629-694
  • [2] Zareba W(2011)Long-QT syndrome Cardiol Rev 19 217-225
  • [3] Moss AJ(1998)The long QT syndrome: ion channel diseases of the heart Mayo Clin Proc 73 250-269
  • [4] Kramer DB(2003)Risk stratification in the long-QT syndrome N Engl J Med 348 1866-1874
  • [5] Zimetbaum PJ(2001)Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias Circulation 103 89-95
  • [6] Ackerman MJ(1999)Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1) J Am Coll Cardiol 33 327-332
  • [7] Priori SG(2002)Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia Circulation 106 69-74
  • [8] Schwartz PJ(2008)Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers Scand J Clin Lab Invest 68 362-368
  • [9] Napolitano C(2005)Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing Hear Rhythm 2 1099-1105
  • [10] Bloise R(2008)Clinical practice. Long-QT syndrome N Engl J Med 358 169-176