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Article

Co-inheritance of mutations associated with arrhythmogenic cardiomyopathy and hypertrophic cardiomyopathy.

European journal of human genetics : EJHG - 1 Oct 2017

De Bortoli Marzia, Calore Chiara, Lorenzon Alessandra, Calore Martina, Poloni Giulia, Mazzotti Elisa, Rigato Ilaria, Marra Martina Perazzolo, Melacini Paola, Iliceto Sabino, Thiene Gaetano, Basso Cristina, Daliento Luciano, Corrado Domenico, Rampazzo Alessandra, Bauce Barbara

Abstract excerpt

Arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically distinct disorders of the myocardium. Here we describe for the first time co-inheritance of mutations in genes associated with ACM or HCM in two families with recurrence of both cardiomyopathies. Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein C (MYBPC3) genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiac Myosins

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Source

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Identifiers

PMID: 28699631
DOI: 10.1038/ejhg.2017.109
PMCID: PMC5602010

Genes

DSP
MYBPC3
MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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