Article
Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy.
PloS one - 1 Jan 2015
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
Abstract excerpt
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 the cardiac phenotypes caused by LMNA mutations are not yet fully elucidated. This study involved a large Italian...
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