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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2015
Gaiak:
Research Article
Sarrera elektronikoa: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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