Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome - Antonicka, Hana; Weraarpachai, Woranontee; Szigety, Katherine M.; Kopajtich, Robert; Gibson, James B.; Van Hove, Johan L.K.; Friederich, Marisa W.; Lopriore, Piervito; Neuhofer, Christiane; Van Hove, Roxanne A.; Cole, Michel A.; Reisdorph, Richard; et al. (American journal of human genetics, 2025)
Keywords: Adult; Age of Onset; Alleles; cytochrome c oxidase deficiency; Cytochrome-c Oxidase Deficiency - genetics; Electron Transport Complex IV - genetics; Electron Transport Complex IV - metabolism; FASTKD5; Female; Fibroblasts - metabolism; Humans; Leigh Disease - genetics; Leigh syndrome; Male; Mitochondria; mitochondrial disease; mitochondrial DNA; mitochondrial gene expression; Mitochondrial Proteins - genetics; mitochondrial translation; Mutation - genetics; Mutation, Missense; neurodegenerative disease; RNA processing; mitochondrial translation; Leigh syndrome; neurodegenerative disease; mitochondrial gene expression; mitochondrial DNA; FASTKD5; cytochrome c oxidase deficiency; RNA processing; mitochondrial disease