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

• Main Authors: Qi Yang (Author), Qiang Zhang (Author), Zailong Qin (Author), Shujie Zhang (Author), Sheng Yi (Author), Shang Yi (Author), Qinle Zhang (Author), Jingsi Luo (Author)
• Format: Book
• Published: BMC, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...