Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene - Merner, Nancy D.; Hodgkinson, Kathy A.; Haywood, Annika F.M.; Connors, Sean; French, Vanessa M.; Drenckhahn, Jörg-Detlef; Kupprion, Christine; Ramadanova, Kalina; Thierfelder, Ludwig; McKenna, William; Gallagher, Barry; Morris-Larkin, Lynn; et al. (American journal of human genetics, 2008)
Keywords: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Sequence; Arrhythmogenic Right Ventricular Dysplasia - complications; Arrhythmogenic Right Ventricular Dysplasia - genetics; Arrhythmogenic Right Ventricular Dysplasia - pathology; Biological and medical sciences; Cardiac dysrhythmias; Cardiology; Cardiology. Vascular system; Cardiovascular disease; Child; Chromosomes, Human, Pair 3 - genetics; DNA Mutational Analysis; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genes; Genetic Testing; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Heart; Heart Failure - etiology; Heart Failure - genetics; Heart Failure - pathology; Humans; Life Expectancy; Male; Medical genetics; Medical sciences; Membrane Proteins - chemistry; Membrane Proteins - genetics; Membrane Proteins - metabolism; Middle Aged; Molecular and cellular biology; Molecular Sequence Data; Mutation; Mutation, Missense; Myocardium - pathology; Pedigree; Penetrance; Physical Chromosome Mapping; Protein Conformation; Sex Factors; Human; Missense mutation; Arrhythmia; Gene; Arrhythmogenic right ventricular dysplasia; Heart disease; Genetics; Cardiovascular disease; Genetic disease