Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy
2011; Oxford University Press; Volume: 33; Issue: 9 Linguagem: Inglês
10.1093/eurheartj/ehr451
ISSN1522-9645
AutoresGiovanni Quarta, Petros Syrris, Michael T. Ashworth, Sharon Jenkins, Krisztina Zuborne Alapi, John M. Morgan, Alison Muir, Antonios Pantazis, William J. McKenna, Perry Elliott,
Tópico(s)RNA Research and Splicing
ResumoAimsArrhythmogenic 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.
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