Identification of Two Homozygous Variants in MYBPC3 and SMYD1 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 MYBPC3 and SMYD1 genes. The first patient is a female proband exhibiting hypertrophic cardiomyopathy (HCM) and biventricular...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048717/
https://www.ncbi.nlm.nih.gov/pubmed/36980931
http://dx.doi.org/10.3390/genes14030659

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048717/
https://www.ncbi.nlm.nih.gov/pubmed/36980931
http://dx.doi.org/10.3390/genes14030659

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