Identification of Two Homozygous Variants in <i>MYBPC3</i> and <i>SMYD1</i> Genes Associated with Severe Infantile Cardiomyopathy

Identification of Two Homozygous Variants in <i>MYBPC3</i> and <i>SMYD1</i> Genes Associated with Severe Infantile Cardiomyopathy

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 <i>MYBPC3</i> and <i>SMYD1</i> genes. The first patient is a female proband exhibiting hypertrophic c...

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Bibliographic Details
Main Authors: Marta W. Szulik, Miguel Reyes-Múgica, Daniel F. Marker, Ana M. Gomez, Matthew D. Zinn, Leslie K. Walsh, Juan Pablo Ochoa, Sarah Franklin, Lina Ghaloul-Gonzalez
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
infantile cardiomyopathy
MYBPC3
SMYD1
biventricular heart failure
hypertrophic cardiomyopathy
Online Access:https://www.mdpi.com/2073-4425/14/3/659

Internet

https://www.mdpi.com/2073-4425/14/3/659

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