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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Pubblicato in:PLoS One
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Research Article
Accesso online: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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