Clinical and Functional Characterization of a Novel Mutation in Lamin A/C Gene in a Multigenerational Family with Arrhythmogenic Cardiac Laminopathy

Mutations in the lamin A/C gene (LMNA) were associated with dilated cardiomyopathy (DCM) and, recently, were related to severe forms of arrhythmogenic right ventricular cardiomyopathy (ARVC). Both genetic and phenotypic overlap between DCM and ARVC was observed; molecular pathomechanisms leading to...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Forleo, Cinzia, Carmosino, Monica, Resta, Nicoletta, Rampazzo, Alessandra, Valecce, Rosanna, Sorrentino, Sandro, Iacoviello, Massimo, Pisani, Francesco, Procino, Giuseppe, Gerbino, Andrea, Scardapane, Arnaldo, Simone, Cristiano, Calore, Martina, Torretta, Silvia, Svelto, Maria, Favale, Stefano
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383583/
https://ncbi.nlm.nih.gov/pubmed/25837155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0121723
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