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PubMed (cited) for id: 220111

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LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.
Oláhová M, Hardy SA, Hall J, Yarham JW, Haack TB, Wilson WC, Alston CL, He L, Aznauryan E, Brown RM, Brown GK, Morris AA, Mundy H, Broomfield A, Barbosa IA, Simpson MA, Deshpande C, Moeslinger D, Koch J, Stettner GM, Bonnen PE, Prokisch H, Lightowlers RN, McFarland R, Chrzanowska-Lightowlers ZM, Taylor RW. Oláhová M, et al. Brain. 2015 Dec;138(Pt 12):3503-19. doi: 10.1093/brain/awv291. Epub 2015 Oct 27. Brain. 2015. PMID: 26510951 Free PMC article.
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.
Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES. Mootha VK, et al. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. doi: 10.1073/pnas.242716699. Epub 2003 Jan 14. Proc Natl Acad Sci U S A. 2003. PMID: 12529507 Free PMC article.
Cytochrome c oxidase deficiency.
DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, Tritschler HJ, Bonilla E, Miranda AF, DeVivo DC, Schon EA. DiMauro S, et al. Pediatr Res. 1990 Nov;28(5):536-41. doi: 10.1203/00006450-199011000-00025. Pediatr Res. 1990. PMID: 2175026 Review.