| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5905254 | Gene | 2016 | 29 Pages |
Abstract
Our results extend the mutational spectrum of HCM and contribute in defining the molecular pathogenesis and inheritance pattern(s) of this condition. Besides, we delineate a specific procedure for the identification of the most likely pathogenetic variants for a next generation sequencing approach embodied in a clinical context.
Keywords
gERPnsSNVARVCSarcomereLVMHCMroot–mean–square deviationVOUSLVEFgenomic evolutionary rate profilingcMRIMWTNSVTPMKpolymorphism phenotyping v2RCMSIFTDCMintracardiac defibrillatorNGSSCDRMSDnuclear magnetic resonanceGenetic testingElectrocardiographyECGCardiac magnetic resonanceNon-sustained ventricular tachycardiaNMRNext generation sequencingLeft ventricular massICDSorting Intolerant From TolerantSudden cardiac deathPolyPhen-2PacemakerArrhythmogenic right ventricular cardiomyopathyRestrictive cardiomyopathyHypertrophic cardiomyopathyleft ventricular ejection fraction
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Authors
Irene Bottillo, Daniela D'Angelantonio, Viviana Caputo, Alessandro Paiardini, Martina Lipari, Carmelilia De Bernardo, Diana Giannarelli, Antonio Pizzuti, Silvia Majore, Marco Castori, Elisabetta Zachara, Federica Re, Paola Grammatico,