LMNA Mutation in a Family with a Strong History of Sudden Cardiac Death

We report a family with heterozygous deletion of exons 3-6 of the gene. The main presentation of affected family members was characterized by ventricular and supraventricular arrhythmias, atrioventricular (AV) block and sudden cardiac death (SCD) but also by severe dilative cardiomyopathy (DCM). We...

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Veröffentlicht in:	Genes 2022-01, Vol.13 (2), p.169
Hauptverfasser:	Keil, Laura, Berisha, Filip, Knappe, Dorit, Kubisch, Christian, Shoukier, Moneef, Kirchhof, Paulus, Fabritz, Larissa, Hellenbroich, Yorck, Woitschach, Rixa, Magnussen, Christina
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age Aged Anaerobic threshold Cardiac arrhythmia Cardiomyocytes Cardiomyopathy Cardiomyopathy, Dilated Cardiovascular disease Case Report Congestive heart failure Death, Sudden, Cardiac - etiology Defibrillators Dyspnea Ejection fraction Electrocardiography Exons Female Gene deletion Gene expression Genetic diversity Genotype & phenotype Growth factors Heart Failure Heart transplantation Humans Kinases Lamin Type A - genetics Localization Magnetic resonance imaging Male Mutation Patients Protein expression Proteins Siblings Ventricle
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