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Article

Significance of sarcomere gene mutations analysis in the end-stage phase of hypertrophic cardiomyopathy.

The American journal of cardiology - 1 Sept 2014

Biagini Elena, Olivotto Iacopo, Iascone Maria, Parodi Maria I, Girolami Francesca, Frisso Giulia, Autore Camillo, Limongelli Giuseppe, Cecconi Massimiliano, Maron Barry J, Maron Martin S, Rosmini Stefania, Formisano Francesco, Musumeci Beatrice, Cecchi Franco, Iacovoni Attilio, Haas Tammy S, Bacchi Reggiani Maria L, Ferrazzi Paolo, Salvatore Francesco, Spirito Paolo, Rapezzi Claudio

Abstract excerpt

End-stage hypertrophic cardiomyopathy (ES-HC) has an ominous prognosis. Whether genotype can influence ES-HC occurrence is unresolved. We assessed the spectrum and clinical correlates of HC-associated mutations in a large multicenter cohort with end-stage ES-HC. Sequencing analysis of 8 sarcomere genes (MYH7, MYBPC3, TNNI3, TNNT2, TPM1, MYL2, MYL3, and ACTC1) and 2 metabolic genes (PRKAG2 and LAMP2) was performed...

Read the complete abstract on PubMed

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25037680
DOI: 10.1016/j.amjcard.2014.05.065

Genes

MYBPC3
MYH7
ACTC1
LAMP2
MYL2
MYL3
PRKAG2
TNNI3
TNNT2
TPM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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