Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
FASTKD5基因的双等位基因突变与细胞色素c氧化酶缺乏症以及早发型或晚发型莱氏综合征相关。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.05.007
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; Peterson, James T; Dempsey, Katherine J; Ganetzky, Rebecca D; Mancuso, Michelangelo; Prokisch, Holger; Shoubridge, Eric A