Quarta, G and Syrris, P and Ashworth, M and Jenkins, S and Zuborne Alapi, K and Morgan, J and Muir, A and Pantazis, A and McKenna, WJ and Elliott, PM (2012) Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J , 33 (9) 1128 - 1136. 10.1093/eurheartj/ehr451.
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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease predominantly caused by mutations in desmosomal protein genes. Lamin A/C gene (LMNA) mutations are associated with dilated cardiomyopathy, conduction abnormalities and high incidence of sudden cardiac death. In this study, we screened a large cohort of ARVC patients for LMNA mutations.
|Title:||Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.|
|Keywords:||Adult, Age of Onset, Aged, Arrhythmogenic Right Ventricular Dysplasia, Cytoskeletal Proteins, Desmosomes, Diagnosis, Differential, Female, Humans, Lamin Type A, Male, Middle Aged, Mutation, Missense, Pedigree|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science|
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