Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
Marisa W. Friederich, Gabrielle C. Geddes, Saskia B. Wortmann, Ann R. Punnoose, Eric P. Wartchow, Kaz M. Knight, Holger Prokisch, Geralyn Creadon‐Swindell, Johannes A. Mayr, Johan L.K. Van Hove
Topics & Concepts
Lactic acidosisCardiomyopathyMitochondrial diseaseBiologyMitochondrial ribosomeMitochondrial myopathyMitochondrial DNAMyopathyMitochondrionGeneticsRespiratory chainInternal medicineMedicineHeart failureEndocrinologyGeneRibosomeRNAMitochondrial Function and PathologyRNA modifications and cancerATP Synthase and ATPases Research