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Article

Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy.

Genes - 6 Mar 2023

Szulik Marta W, Reyes-Múgica Miguel, Marker Daniel F, Gomez Ana M, Zinn Matthew D, Walsh Leslie K, Ochoa Juan Pablo, Franklin Sarah, Ghaloul-Gonzalez Lina

Abstract excerpt

Mutations in cardiac genes are one of the primary causes of infantile cardiomyopathy. In this study, we report the genetic findings of two siblings carrying variations in the MYBPC3 and SMYD1 genes. The first patient is a female proband exhibiting hypertrophic cardiomyopathy (HCM) and biventricular heart failure carrying a truncating homozygous MYBPC3 variant c.1224-52G>A (IVS13-52G>A) and a novel homozygous...

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Identifiers

PMID: 36980931
DOI: 10.3390/genes14030659
PMCID: PMC10048717

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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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