Ugarteburu, Olatz; Farre-Tarrats, Laia; Muñoz-Pujol, Gerard; Unceta, María; De-Las-Heras, Javier; García-Ribes, Ainhoa; Arza-Ruesga, Arantza; de-la-Morena-Barrio, Belén; Arauz-Garofalo, Gianluca; Gay, Marina; Garrabou, Gloria; Corral, Javier; Vilaseca, Marta; Ribes, Antonia; García-Villoria, Judit; Gort, Laura; Tort, Frederic
(ELSEVIER SCI LTD, 2026-01)
COX4I1 gene encodes cytochrome c oxidase subunit 4 isoform 1, involved in the early assembly stages of mitochondrial respiratory chain complex IV. To date, COX4I1 pathogenic variants have been reported in only a few cases, ...