Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency

eLife

Bryn D Webb, Sara M Nowinski, Ashley Solmonson, …, Ralph J DeBerardinis, Jared Rutter, Sander M Houten

• DOI: 10.7554/elife.68047
• PMID: 36881526
• PMCID: PMC9991045