Article
Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.
PloS one - 1 Jan 2017
Forleo Cinzia, D'Erchia Anna Maria, Sorrentino Sandro, Manzari Caterina, Chiara Matteo, Iacoviello Massimo, Guaricci Andrea Igoren, De Santis Delia, Musci Rita Leonarda, La Spada Antonino, Marangelli Vito, Pesole Graziano, Favale Stefano
Abstract excerpt
Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC), with higher morbidity and mortality. These diseases are genetically diverse and associated with rare mutations in a large number of genes, many of which overlap among the phenotypes. To better...
Topics
- Adolescent
- Adult
- Cardiomyopathies
- Child
- Female
- Genetic Association Studies
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Middle Aged