Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

BACKGROUND: Dilated cardiomyopathy type-2D (CMD2D) is a rare heart disease causing a severe cardiomyopathy with neonatal onset and rapid progression to cardiac decompensation and death in untreated patients. CMD2D is an autosomal recessive disease resulting from variants in the RPL3L gene, which enc...

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Detalles Bibliográficos
Autores principales: Yang, Qi, Zhang, Qiang, Qin, Zailong, Zhang, Shujie, Yi, Sheng, Yi, Shang, Zhang, Qinle, Luo, Jingsi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258480/
https://www.ncbi.nlm.nih.gov/pubmed/37308880
http://dx.doi.org/10.1186/s12920-023-01567-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258480/
https://www.ncbi.nlm.nih.gov/pubmed/37308880
http://dx.doi.org/10.1186/s12920-023-01567-y

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