Novel cytochrome c-oxidase deficiency and mitochondrial myopathy in non-syndromic cleft lip with or without palate.
Noor RAM, Shah NSM, Zin AAM, Sulaiman WAW.
Tissue Cell. 2025 Aug;95:102887. doi: 10.1016/j.tice.2025.102887. Epub 2025 Mar 26.
Cytochrome c oxidase deficiency.
DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, Tritschler HJ, Bonilla E, Miranda AF, DeVivo DC, Schon EA.
Pediatr Res. 1990 Nov;28(5):536-41. doi: 10.1203/00006450-199011000-00025.
Cytochrome c oxidase deficiency.
Shoubridge EA.
Am J Med Genet. 2001 Spring;106(1):46-52. doi: 10.1002/ajmg.1378.
Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency.
Darin N, Moslemi AR, Lebon S, Rustin P, Holme E, Oldfors A, Tulinius M.
Neuropediatrics. 2003 Dec;34(6):311-7. doi: 10.1055/s-2003-44670.
Mitochondrial disorders.
Schapira AH.
Curr Opin Neurol. 2000 Oct;13(5):527-32. doi: 10.1097/00019052-200010000-00004.
Cytochrome c oxidase deficiency in the muscle of patients with zidovudine myopathy is segmental and affects both mitochondrial DNA- and nuclear DNA-encoded subunits.
Yerroum M, Pham-Dang C, Authier FJ, Monnet I, Gherardi R, Chariot P.
Acta Neuropathol. 2000 Jul;100(1):82-6. doi: 10.1007/s004010051196.
Partial cytochrome c oxidase deficiency and cytoplasmic bodies in patients with zidovudine myopathy.
Chariot P, Gherardi R.
Neuromuscul Disord. 1991;1(5):357-63. doi: 10.1016/0960-8966(91)90122-9.
FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.
Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M.
Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4.
Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.
DiMauro S, Mendell JR, Sahenk Z, Bachman D, Scarpa A, Scofield RM, Reiner C.
Neurology. 1980 Aug;30(8):795-804. doi: 10.1212/wnl.30.8.795.
Cytochrome c oxidase deficiency in zidovudine myopathy affects perifascicular muscle fibres and arterial smooth muscle cells.
Chariot P, Le Maguet F, Authier FJ, Labes D, Poron F, Gherardi R.
Neuropathol Appl Neurobiol. 1995 Dec;21(6):540-7. doi: 10.1111/j.1365-2990.1995.tb01101.x.
