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Article

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

International journal of molecular medicine - 1 Oct 2016

Cecconi Massimiliano, Parodi Maria I, Formisano Francesco, Spirito Paolo, Autore Camillo, Musumeci Maria B, Favale Stefano, Forleo Cinzia, Rapezzi Claudio, Biagini Elena, Davì Sabrina, Canepa Elisabetta, Pennese Loredana, Castagnetta Mauro, Degiorgio Dario, Coviello Domenico A

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS) assay. An Ion AmpliSeq™ Custom Panel for the enrichment of 19 genes, of which 9 of these did not encode...

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Identifiers

PMID: 27600940
DOI: 10.3892/ijmm.2016.2732
PMCID: PMC5029966

Genes

GLA
MYBPC3
MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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