{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T17:46:33Z","timestamp":1771955193598,"version":"3.50.1"},"reference-count":43,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[1998,7,1]],"date-time":"1998-07-01T00:00:00Z","timestamp":899251200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5497,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1998,7]]},"DOI":"10.1086\/301910","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"29-36","source":"Crossref","is-referenced-by-count":108,"title":["Cytochrome c Oxidase Deficiency Associated with the First Stop-Codon Point Mutation in Human mtDNA"],"prefix":"10.1016","volume":"63","author":[{"given":"M.G.","family":"Hanna","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.P.","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Rahman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.J.M.","family":"Lane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Land","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Heales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.J.","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.H.V.","family":"Schapira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.A.","family":"Morgan-Hughes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.W.","family":"Wood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/301910_bib1","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/ana.410410219","article-title":"Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome","volume":"41","author":"Adams","year":"1997","journal-title":"Ann Neurol"},{"key":"10.1086\/301910_bib2","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organisation of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"key":"10.1086\/301910_bib3","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1016\/S0022-3476(05)80962-X","article-title":"Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome","volume":"123","author":"Bernes","year":"1993","journal-title":"J Pediatr"},{"key":"10.1086\/301910_bib4","first-page":"1187","article-title":"Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged red fibers (MERRF)","volume":"51","author":"Boulet","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301910_bib5","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1073\/pnas.76.4.1967","article-title":"Rapid evolution of animal mitochondrial DNA","volume":"76","author":"Brown","year":"1979","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301910_bib6","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1146\/annurev.bi.59.070190.003033","article-title":"Structure and function of cytochrome c oxidase","volume":"59","author":"Capaldi","year":"1990","journal-title":"Annu Rev Biochem"},{"key":"10.1086\/301910_bib7","first-page":"966","article-title":"Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals\u2014and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers","volume":"54","author":"Chomyn","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301910_bib8","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1038\/ng0797-222","article-title":"Reversal of a mitochondrial DNA defect in human skeletal muscle","volume":"16","author":"Clark","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/301910_bib10","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/0022-2836(90)90225-B","article-title":"Sequence and gene organisation of the chicken mitochondrial genome","volume":"212","author":"Desjardin","year":"1989","journal-title":"J Mol Biol"},{"key":"10.1086\/301910_bib11","first-page":"91","article-title":"Cytochrome oxidase deficiency: progress and problems","author":"DiMauro","year":"1994"},{"key":"10.1086\/301910_bib12","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1212\/WNL.13.11.919","article-title":"Rapid examination of muscle tissue: an improved stain for fresh frozen biopsy section","volume":"19","author":"Engel","year":"1963","journal-title":"Neurology"},{"key":"10.1086\/301910_bib13","doi-asserted-by":"crossref","first-page":"6715","DOI":"10.1073\/pnas.77.11.6715","article-title":"Maternal inheritance of human mitochondrial DNA","volume":"71","author":"Giles","year":"1980","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/301910_bib14","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1172\/JCI114135","article-title":"Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency","volume":"84","author":"Haller","year":"1989","journal-title":"J Clin Invest"},{"key":"10.1086\/301910_bib15","doi-asserted-by":"crossref","first-page":"2015","DOI":"10.1002\/j.1460-2075.1991.tb07731.x","article-title":"Subunit III of cytochrome c oxidase is not involved in proton translocation: a site-directed mutagenesis study","volume":"10","author":"Haltia","year":"1991","journal-title":"Embo J"},{"key":"10.1086\/301910_bib18","unstructured":"Hanna MG, Brockington MB, Sweeney MG, Lamont PJ, Morgan-Hughes JA, Wood NW (1998) Mitochondrial DNA rearrangements in humans: clinical and genetic correlations. J Neurol Neurosurg Psychiatry (in press)"},{"key":"10.1086\/301910_bib17","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/0022-510X(95)00022-T","article-title":"Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A\u2192G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA","volume":"130(2)","author":"Hanna","year":"1995","journal-title":"J Neurol Sci"},{"key":"10.1086\/301910_bib16","first-page":"1026","article-title":"Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation","volume":"56","author":"Hanna","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301910_bib19","first-page":"181","article-title":"Leber's hereditary optic neuropathy","author":"Harding","year":"1994"},{"key":"10.1086\/301910_bib20","first-page":"49","article-title":"Transmission genetics of mammalian mitochondria: a molecular model and experimental evidence","author":"Hauswirth","year":"1985"},{"key":"10.1086\/301910_bib21","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/331717a0","article-title":"Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies","volume":"331","author":"Holt","year":"1988","journal-title":"Nature"},{"key":"10.1086\/301910_bib22","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1038\/ng0496-410","article-title":"A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria","volume":"12","author":"Keightley","year":"1996","journal-title":"Nat Genet"},{"key":"10.1086\/301910_bib23","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1016\/S0006-291X(05)80860-5","article-title":"A point mutation in the mitochondrial tRNA Leu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)","volume":"173","author":"Kobayashi","year":"1990","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/301910_bib24","first-page":"360","article-title":"Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child","volume":"50","author":"Larsson","year":"1992","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301910_bib25","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1016\/0960-8966(94)00079-O","article-title":"A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene","volume":"5","author":"Manfredi","year":"1995","journal-title":"Neuromuscul Disord"},{"key":"10.1086\/301910_bib27","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1093\/brain\/115.2.333","article-title":"Brain, skeletal muscle and platelet homogenate function in Parkinson's disease","volume":"115","author":"Mann","year":"1992","journal-title":"Brain"},{"key":"10.1086\/301910_bib26","first-page":"39","article-title":"Human skin fibroblasts","author":"Martin","year":"1973"},{"key":"10.1086\/301910_bib29","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1097\/00019052-199610000-00010","article-title":"Mitochondrial disorders","volume":"9","author":"Moraes","year":"1996","journal-title":"Curr Opin Neurol"},{"key":"10.1086\/301910_bib28","first-page":"522","article-title":"Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridisation and single-fiber PCR. Vol 264","author":"Moraes","year":"1996"},{"key":"10.1086\/301910_bib31","series-title":"Myology","first-page":"1610","article-title":"Mitochondrial diseases","author":"Morgan-Hughes","year":"1994"},{"key":"10.1086\/301910_bib30","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1093\/brain\/100.4.617","article-title":"A mitochondrial myopathy characterised by a deficiency in reducible cytochrome b","volume":"100","author":"Morgan-Hughes","year":"1977","journal-title":"Brain"},{"key":"10.1086\/301910_bib33","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1093\/hmg\/6.2.221","article-title":"A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome","volume":"6","author":"Munaro","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/301910_bib34","doi-asserted-by":"crossref","first-page":"8117","DOI":"10.1093\/nar\/17.20.8117","article-title":"Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome","volume":"17","author":"Nelson","year":"1989","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/301910_bib35","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1093\/brain\/109.5.915","article-title":"The clinical features of mitochondrial myopathy","volume":"109","author":"Petty","year":"1986","journal-title":"Brain"},{"key":"10.1086\/301910_bib36","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/S0140-6736(89)91256-7","article-title":"Duplications of mitochondrial DNA in mitochondrial myopathy","volume":"1","author":"Poulton","year":"1989","journal-title":"Lancet"},{"issue":"Suppl 1","key":"10.1086\/301910_bib37","first-page":"56","article-title":"Patterns of subunit loss in cytochrome oxidase deficiency","volume":"20","author":"Rahman","year":"1997","journal-title":"J Inherit Metab Dis"},{"key":"10.1086\/301910_bib38","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1023\/A:1022685929755","article-title":"Mitochondrial DNA mutations and pathogenesis","volume":"29","author":"Schon","year":"1997","journal-title":"J Bioenerg Biomembr"},{"key":"10.1086\/301910_bib39","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1093\/hmg\/3.1.13","article-title":"Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibres from patients with mitochondrial myopathy","volume":"3","author":"Sciacco","year":"1994","journal-title":"Hum Mol Genet"},{"key":"10.1086\/301910_bib40","doi-asserted-by":"crossref","first-page":"2239","DOI":"10.1093\/hmg\/6.13.2239","article-title":"Complete resolution of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a transfer RNA point mutation and mitochondrial encephalomyopathy","volume":"6","author":"Shoubridge","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1086\/301910_bib42","first-page":"199","article-title":"Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome c oxidase subunits in chronic progressive external ophthalmoplegia","volume":"1315","author":"Taanman","year":"1996","journal-title":"Biochem Biophys Acta"},{"key":"10.1086\/301910_bib41","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1006\/geno.1994.1391","article-title":"Strand asymmetry in human mitochondrial DNA mutations","volume":"22","author":"Tanaka","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/301910_bib43","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1126\/science.272.5265.1136","article-title":"The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8\u00c5","volume":"272","author":"Tsukihara","year":"1996","journal-title":"Science"},{"key":"10.1086\/301910_bib44","first-page":"373","article-title":"A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle","volume":"60","author":"Weber","year":"1997","journal-title":"Am J Hum Genet"},{"key":"10.1086\/301910_bib45","doi-asserted-by":"crossref","first-page":"16298","DOI":"10.1021\/bi00050a009","article-title":"Involvement of cytochrome c oxidase subunit III in energy coupling","volume":"34","author":"Wu","year":"1995","journal-title":"Biochemistry"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707607502?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707607502?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,3,4]],"date-time":"2020-03-04T04:33:52Z","timestamp":1583296432000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707607502"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,7]]},"references-count":43,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1998,7]]}},"alternative-id":["S0002929707607502"],"URL":"https:\/\/doi.org\/10.1086\/301910","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1998,7]]}}}