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

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

Abstract 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, w...

Full description

Bibliographic Details
Main Authors: Qi Yang, Qiang Zhang, Zailong Qin, Shujie Zhang, Sheng Yi, Shang Yi, Qinle Zhang, Jingsi Luo
Format: Article
Language:English
Published: BMC 2023-06-01
Series:BMC Medical Genomics
Subjects:
Dilated cardiomyopathy type-2D
RPL3L
Whole exome sequencing
Novel variants
Online Access:https://doi.org/10.1186/s12920-023-01567-y

Internet

https://doi.org/10.1186/s12920-023-01567-y

Similar Items