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Exploring digenic inheritance in arrhythmogenic cardiomyopathy

Abstract Background Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but...

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Autori principali: Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva, Alessandra Rossini
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2017-12-01
Serie:BMC Medical Genetics
Soggetti:
Digenic inheritance
Arrhythmogenic cardiomyopathy
Exome sequencing
ACM
PKP2
Accesso online:http://link.springer.com/article/10.1186/s12881-017-0503-7
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