Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect

Publication date: Available online 10 June 2021Source: Molecular Genetics and MetabolismAuthor(s): Marisa W. Friederich, Gabrielle C. Geddes, Saskia B. Wortmann, Ann Punnoose, Eric Wartchow, Kaz M. Knight, Holger Prokisch, Geralyn Creadon-Swindell, Johannes A. Mayr, Johan L.K. Van Hove
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research