Whole-exome sequencing identified variants in Chinese patients with Dilated cardiomyopathy type-2D

Dilated cardiomyopathy type-2D is a rare autosomal recessive heart disease leading to heart failure and sudden cardiac death. The disease is caused by mutations in the RPL3L gene, which encodes the 60S ribosomal protein that is exclusively expressed in skeletal and cardiac muscle and plays an essential role in myoblast growth and fusion. Previous reports have associated CMD2D with only one small duplication and seven nucleotide substitution in the PREPL gene.