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

• Auteurs principaux: Qi Yang (Auteur), Qiang Zhang (Auteur), Zailong Qin (Auteur), Shujie Zhang (Auteur), Sheng Yi (Auteur), Shang Yi (Auteur), Qinle Zhang (Auteur), Jingsi Luo (Auteur)
• Format: Livre
• Publié: BMC, 2023-06-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...