Novel Compound Heterozygous Missense Variants in RPL3L Gene Associated With Neonatal Dilated Cardiomyopathy.

Abstract excerpt

Dilated cardiomyopathy type 2D (CMD2D) is a rare autosomal recessive disorder characterized by neonatal-onset severe cardiomyopathy, rapid progression to cardiac decompensation, and high mortality, with heart transplantation being the only life-saving intervention. Although mutations in RPL3L, a muscle-specific ribosomal protein gene critical for cardiac and skeletal muscle function, are known to cause CMD2D,...

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