Compound Heterozygous Missense Variants in RPL3L Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review

Whole exome sequencing has identified an infant girl with fulminant dilated cardiomyopathy (DCM), leading to severe acute heart failure associated with ribosomal protein large 3-like (RPL3L) gene pathologic variants. Other genetic tests for mitochondrial disorders by sequence analysis and deletion t...

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Detalles Bibliográficos
Autores principales: Das, Bibhuti B., Gajula, Viswanath, Arya, Sandeep, Taylor, Mary B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600237/
https://www.ncbi.nlm.nih.gov/pubmed/36291431
http://dx.doi.org/10.3390/children9101495

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600237/
https://www.ncbi.nlm.nih.gov/pubmed/36291431
http://dx.doi.org/10.3390/children9101495

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