title: Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy.
authors.affiliation: From the Department of Cardiology, The Heart Centre (A.H.C., H.B., J.H.S.) and Department of Pathology (C.B.A.), Rigshospitalet, Copenhagen University Hospital, Denmark; The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark (A.H.C., J.H.S.); Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Münster, Germany (B.S., M.B.); and Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Denmark (J.H.S.). alexhc@dadlnet.dk.
authors.forename: Alex Hørby
authors.initials: AH
authors.lastname: Christensen
authors.affiliation: From the Department of Cardiology, The Heart Centre (A.H.C., H.B., J.H.S.) and Department of Pathology (C.B.A.), Rigshospitalet, Copenhagen University Hospital, Denmark; The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark (A.H.C., J.H.S.); Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Münster, Germany (B.S., M.B.); and Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Denmark (J.H.S.).
authors.forename: Boris
authors.initials: B
authors.lastname: Schmitz
authors.affiliation: From the Department of Cardiology, The Heart Centre (A.H.C., H.B., J.H.S.) and Department of Pathology (C.B.A.), Rigshospitalet, Copenhagen University Hospital, Denmark; The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark (A.H.C., J.H.S.); Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Münster, Germany (B.S., M.B.); and Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Denmark (J.H.S.).
authors.forename: Claus B
authors.initials: CB
authors.lastname: Andersen
authors.affiliation: From the Department of Cardiology, The Heart Centre (A.H.C., H.B., J.H.S.) and Department of Pathology (C.B.A.), Rigshospitalet, Copenhagen University Hospital, Denmark; The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark (A.H.C., J.H.S.); Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Münster, Germany (B.S., M.B.); and Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Denmark (J.H.S.).
authors.forename: Henning
authors.initials: H
authors.lastname: Bundgaard
authors.affiliation: From the Department of Cardiology, The Heart Centre (A.H.C., H.B., J.H.S.) and Department of Pathology (C.B.A.), Rigshospitalet, Copenhagen University Hospital, Denmark; The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark (A.H.C., J.H.S.); Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Münster, Germany (B.S., M.B.); and Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Denmark (J.H.S.).
authors.forename: Stefan-Martin
authors.initials: SM
authors.lastname: Brand
authors.affiliation: From the Department of Cardiology, The Heart Centre (A.H.C., H.B., J.H.S.) and Department of Pathology (C.B.A.), Rigshospitalet, Copenhagen University Hospital, Denmark; The Danish National Research Foundation Centre for Cardiac Arrhythmia, Copenhagen, Denmark (A.H.C., J.H.S.); Institute of Sports Medicine, Molecular Genetics of Cardiovascular Disease, University Hospital Münster, Germany (B.S., M.B.); and Department of Clinical Medicine, Faculty of Medicine and Health Sciences, University of Copenhagen, Denmark (J.H.S.).
authors.forename: Jesper Hastrup
authors.initials: JH
authors.lastname: Svendsen
mesh_terms: D000328:Adult; D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D051187:Desmocollins / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: C081561:DSC2 protein, human; D051187:Desmocollins