{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T03:47:40Z","timestamp":1772682460526,"version":"3.50.1"},"reference-count":27,"publisher":"Elsevier BV","issue":"12","license":[{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2005,12,1]],"date-time":"2005-12-01T00:00:00Z","timestamp":1133395200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2005,12]]},"DOI":"10.1016\/j.nmd.2005.09.005","type":"journal-article","created":{"date-parts":[[2005,11,9]],"date-time":"2005-11-09T07:15:50Z","timestamp":1131520550000},"page":"851-857","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":46,"title":["Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy"],"prefix":"10.1016","volume":"15","author":[{"given":"R.","family":"Horv\u00e1th","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.G.H.","family":"Schoser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"M\u00fcller-H\u00f6cker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"V\u00f6lpel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Jaksch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2005.09.005_bib1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ajmg.1378","article-title":"Cytochrome c oxidase deficiency","volume":"106","author":"Shoubridge","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib2","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1056\/NEJM200309253491318","article-title":"Mitochondrial respiratory-chain diseases","volume":"349","author":"DiMauro","year":"2003","journal-title":"N Engl J Med"},{"key":"10.1016\/j.nmd.2005.09.005_bib3","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":"10.1016\/j.nmd.2005.09.005_bib4","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1086\/301910","article-title":"Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA","volume":"63","author":"Hanna","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib5","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1086\/302590","article-title":"A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy","volume":"65","author":"Rahman","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib6","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/ana.410430119","article-title":"Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease","volume":"43","author":"Comi","year":"1998","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2005.09.005_bib7","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1212\/WNL.55.5.644","article-title":"Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA","volume":"55","author":"Karadimas","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2005.09.005_bib8","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1136\/jmg.39.11.812","article-title":"Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene","volume":"39","author":"Horvath","year":"2002","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib9","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.nmd.2003.10.011","article-title":"A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis","volume":"14","author":"McFarland","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2005.09.005_bib10","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1093\/jnen\/64.2.123","article-title":"Mitochondrial myopathy and rhabdomylolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I","volume":"64","author":"Kollberg","year":"2005","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nmd.2005.09.005_bib11","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":"10.1016\/j.nmd.2005.09.005_bib12","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/hmg\/9.18.2733","article-title":"A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by leigh-like syndrome","volume":"9","author":"Tiranti","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib13","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1086\/302361","article-title":"An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy","volume":"64","author":"Clark","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib14","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1002\/ana.1141","article-title":"Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene","volume":"50","author":"Campos","year":"2001","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2005.09.005_bib15","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1002\/1096-8628(20010722)102:1<95::AID-AJMG1412>3.0.CO;2-U","article-title":"Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II","volume":"102","author":"Wong","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib16","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1086\/302546","article-title":"A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV","volume":"65","author":"Bruno","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib17","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1093\/hmg\/11.16.1797","article-title":"Metabolic consequences of a novel missense mutation of the mtDNA COI gene","volume":"11","author":"Varlamov","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib18","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1016\/0046-8177(89)90154-8","article-title":"Fatal mitochondrial myopathy with cytochrome-c-oxidase deficiency and subunit-restricted reduction of enzyme protein in two siblings: an autopsy-immunocytochemical study","volume":"20","author":"M\u00fcller-H\u00f6cker","year":"1989","journal-title":"Hum Pathol"},{"key":"10.1016\/j.nmd.2005.09.005_bib19","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/BF00441735","article-title":"A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q","volume":"144","author":"Fischer","year":"1986","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.nmd.2005.09.005_bib20","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1016\/S0076-6879(96)64046-4","article-title":"Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR","volume":"264","author":"Moraes","year":"1996","journal-title":"Methods Enzymol"},{"key":"10.1016\/j.nmd.2005.09.005_bib21","doi-asserted-by":"crossref","first-page":"46925","DOI":"10.1074\/jbc.M106429200","article-title":"In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I","volume":"276","author":"D'Aurelio","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2005.09.005_bib22","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0887-8994(96)00018-5","article-title":"Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation","volume":"14","author":"D'Aurelio Macmillan","year":"1996","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.nmd.2005.09.005_bib23","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1002\/ana.410350418","article-title":"Zidovudine-induced mitochondrial myopathy is associated with muscle carnitine deficiency and lipid storage","volume":"35","author":"Dalakas","year":"1994","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2005.09.005_bib24","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0014-5793(00)01083-8","article-title":"Secondary carnitine deficiency and impaired docosahexaenoic (22:6n\u22123) acid synthesis: a common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation","volume":"468","author":"Munoz-Infante","year":"2000","journal-title":"Fed Eur Biochem Soc Lett"},{"key":"10.1016\/j.nmd.2005.09.005_bib25","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1212\/WNL.48.5.1238","article-title":"Mitochondrial encephalomyopathy with coenzyme Q10 deficiency","volume":"48","author":"Sobreira","year":"1997","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2005.09.005_bib26","doi-asserted-by":"crossref","first-page":"e75","DOI":"10.1136\/jmg.2003.015024","article-title":"Spontaneous recovery of a childhood onset mitochondrial myopathy caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene","volume":"41","author":"Horvath","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2005.09.005_bib27","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1093\/hmg\/8.6.1047","article-title":"Gene shifting: a novel therapy for mitochondrial myopathy","volume":"8","author":"Taivassalo","year":"1999","journal-title":"Hum Mol Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896605002634?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896605002634?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:54:06Z","timestamp":1760774046000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896605002634"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,12]]},"references-count":27,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2005,12]]}},"alternative-id":["S0960896605002634"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2005.09.005","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2005,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2005.09.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2005 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}