{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:46:20Z","timestamp":1762098380281},"reference-count":39,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2010,5,1]],"date-time":"2010-05-01T00:00:00Z","timestamp":1272672000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European Journal of Paediatric Neurology"],"published-print":{"date-parts":[[2010,5]]},"DOI":"10.1016\/j.ejpn.2009.09.008","type":"journal-article","created":{"date-parts":[[2009,10,30]],"date-time":"2009-10-30T08:36:59Z","timestamp":1256891819000},"page":"253-260","source":"Crossref","is-referenced-by-count":27,"title":["A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency"],"prefix":"10.1016","volume":"14","author":[{"given":"Maciej","family":"Pronicki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pawe\u0142","family":"Kowalski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Piekutowska-Abramczuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"Taybert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Karkucinska-Wieckowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara","family":"Szymanska-Debinska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elzbieta","family":"Karczmarewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magdalena","family":"Pajdowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marek","family":"Migdal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bogumila","family":"Milewska-Bobula","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jolanta","family":"Sykut-Cegielska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Popowska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejpn.2009.09.008_bib1","doi-asserted-by":"crossref","first-page":"26780","DOI":"10.1016\/S0021-9258(19)61443-2","article-title":"A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway","volume":"275","author":"Dickinson","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ejpn.2009.09.008_bib2","doi-asserted-by":"crossref","first-page":"20531","DOI":"10.1074\/jbc.271.34.20531","article-title":"SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiae","volume":"271","author":"Glerum","year":"1996","journal-title":"J Biol Chem"},{"key":"10.1016\/j.ejpn.2009.09.008_bib3","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1093\/hmg\/ddh197","article-title":"Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase","volume":"13","author":"Leary","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ejpn.2009.09.008_bib4","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1126863","article-title":"p53 regulates mitochondrial respiration","volume":"312","author":"Matoba","year":"2006","journal-title":"Science"},{"key":"10.1016\/j.ejpn.2009.09.008_bib5","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1093\/hmg\/9.5.795","article-title":"Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency","volume":"9","author":"Jaksch","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ejpn.2009.09.008_bib6","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1111\/j.1651-2227.2007.00008.x","article-title":"Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy","volume":"96","author":"Knuf","year":"2007","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.ejpn.2009.09.008_bib7","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1002\/1531-8249(200005)47:5<589::AID-ANA6>3.0.CO;2-D","article-title":"Differential features of patients with mutations in two COX assembly genes, SURF1 and SCO2","volume":"47","author":"Sue","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib8","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1111\/j.1651-2227.2004.tb02929.x","article-title":"Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene","volume":"93","author":"Vesela","year":"2004","journal-title":"Acta Paediatr"},{"key":"10.1016\/j.ejpn.2009.09.008_bib9","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/15513","article-title":"Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene","volume":"23","author":"Papadopoulou","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejpn.2009.09.008_bib10","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1001\/archneur.59.5.862","article-title":"Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig\u2013Hoffmann disease","volume":"59","author":"Salviati","year":"2002","journal-title":"Arch Neurol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib11","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/ajmg.a.20466","article-title":"Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype","volume":"125A","author":"Tarnopolsky","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejpn.2009.09.008_bib12","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1203\/01.pdr.0000190572.68191.13","article-title":"Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency","volume":"59","author":"Bohm","year":"2006","journal-title":"Pediatr Res"},{"key":"10.1016\/j.ejpn.2009.09.008_bib13","first-page":"495","article-title":"Analytical reliabitity of spectrophotometric analysis of the activity of mitochondrial respiratory chain complexes in muscle homogenates","volume":"33","author":"Karczmarewicz","year":"1887","journal-title":"Diagn Lab"},{"key":"10.1016\/j.ejpn.2009.09.008_bib14","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1136\/jcp.2007.051060","article-title":"Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease","volume":"61","author":"Pronicki","year":"2008","journal-title":"J Clin Pathol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1083\/jcb.38.1.1","article-title":"Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerising osmiophilic reagent, diaminobenzidine (DAB)","volume":"38","author":"Seligman","year":"1968","journal-title":"J Cell Biol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib16","doi-asserted-by":"crossref","first-page":"1823","DOI":"10.1212\/01.wnl.0000244435.27645.54","article-title":"Mitochondrial disease criteria. Diagnostic applications in children","volume":"67","author":"Morava","year":"2006","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2009.09.008_bib17","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1212\/WNL.57.8.1440","article-title":"Homozygosity (E140K) in SCO2 causes delayed infanile onset of cardiomyopathy and neuropathy","volume":"57","author":"Jaksch","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.ejpn.2009.09.008_bib18","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1111\/j.1600-0463.2008.00772.x","article-title":"Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene","volume":"116","author":"Vesela","year":"2008","journal-title":"APMIS"},{"key":"10.1016\/j.ejpn.2009.09.008_bib19","first-page":"20","article-title":"Remodeling of skeletal muscle cells in children with SCO2 gene mutations - ultrastructure study","volume":"47","author":"Matyja","year":"2009","journal-title":"Folia Neuropathol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib20","series-title":"Genetics of mitochondrial disease","first-page":"87","article-title":"Clinical aspects of mitochondrial encephalomyopathies","author":"Pulkes","year":"2003"},{"key":"10.1016\/j.ejpn.2009.09.008_bib21","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1111\/j.1750-3639.2000.tb00274.x","article-title":"Neuropathological aspects of cytochrome c oxidase deficiency","volume":"10","author":"Tanji","year":"2000","journal-title":"Brain Pathol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib22","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1001\/archneurol.2007.65","article-title":"Amyotophic lateral sclerosis with ragged-red fibers","volume":"65","author":"Hirano","year":"2008","journal-title":"Arch Neurol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib23","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.ymgme.2006.04.016","article-title":"A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy","volume":"89","author":"Leary","year":"2006","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ejpn.2009.09.008_bib24","doi-asserted-by":"crossref","first-page":"2822","DOI":"10.1002\/ajmg.a.32523","article-title":"Phenotypic consequences of a novel SCO2 gene mutation","volume":"146A","author":"Verdijk","year":"2008","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejpn.2009.09.008_bib25","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1042\/BJ20050807","article-title":"Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1","volume":"392","author":"Stiburek","year":"2005","journal-title":"Biochem J"},{"key":"10.1016\/j.ejpn.2009.09.008_bib26","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/S0887-8994(98)00137-4","article-title":"Vocal cord paralysis and hypoventilation in a patient with suspected Leigh disease","volume":"20","author":"Lin","year":"1999","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib27","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1007\/s004310050717","article-title":"Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency","volume":"156","author":"Sperl","year":"1997","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.ejpn.2009.09.008_bib28","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1203\/00006450-198909000-00021","article-title":"Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome","volume":"26","author":"Baumgartner","year":"1989","journal-title":"Pediatr Res"},{"key":"10.1016\/j.ejpn.2009.09.008_bib29","first-page":"139","article-title":"Congenital lactic acidosis associated with laryngeal stridor. Report of two cases","volume":"7","author":"Giardini","year":"1981","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.ejpn.2009.09.008_bib30","first-page":"151","article-title":"A newborn infant with respiratory distress and a persistent stridulous breathing","volume":"113","author":"Hart","year":"1987","journal-title":"J Pediatr"},{"key":"10.1016\/j.ejpn.2009.09.008_bib31","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1023\/A:1012937204315","article-title":"Compulsory hyperventilation and hypocapnia of patients with Surf-1 gene mutations as a cause of low serum bicarbonates","volume":"24","author":"Pronicka","year":"2001","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ejpn.2009.09.008_bib32","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/humu.20525","article-title":"Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis","volume":"28","author":"Guenther","year":"2007","journal-title":"Hum Mut"},{"key":"10.1016\/j.ejpn.2009.09.008_bib33","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1177\/08830738060210062501","article-title":"Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations","volume":"21","author":"Coenen","year":"2006","journal-title":"J Child Neurol"},{"key":"10.1016\/j.ejpn.2009.09.008_bib34","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1055\/s-2003-44670","article-title":"Genotypes and clinical phenotypes in children with cytochrome-c oxidase deficiency","volume":"34","author":"Darin","year":"2003","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.ejpn.2009.09.008_bib35","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1001\/archneur.61.6.950","article-title":"Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality","volume":"61","author":"Tay","year":"2004","journal-title":"Arch Neurol"},{"issue":"1","key":"10.1016\/j.ejpn.2009.09.008_bib36","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/S1472-6483(10)60494-4","article-title":"New approaches to the treatment of mitochondrial disorders","volume":"8","author":"Chinnery","year":"2004","journal-title":"Reprod Biomed Online"},{"key":"10.1016\/j.ejpn.2009.09.008_bib37","doi-asserted-by":"crossref","first-page":"3025","DOI":"10.1093\/hmg\/10.26.3025","article-title":"Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts","volume":"10","author":"Jaksch","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ejpn.2009.09.008_bib38","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1042\/0264-6021:3630321","article-title":"Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations","volume":"363","author":"Salviati","year":"2002","journal-title":"Biochem J"},{"key":"10.1016\/j.ejpn.2009.09.008_bib39","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1023\/B:BOLI.0000016614.47380.2f","article-title":"Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein SCO2: is there a potential effect of copper?","volume":"27","author":"Freisinger","year":"2004","journal-title":"J Inherit Metab Dis"}],"container-title":["European Journal of Paediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379809001780?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1090379809001780?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,10,13]],"date-time":"2021-10-13T03:42:16Z","timestamp":1634096536000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1090379809001780"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5]]},"references-count":39,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["S1090379809001780"],"URL":"https:\/\/doi.org\/10.1016\/j.ejpn.2009.09.008","relation":{},"ISSN":["1090-3798"],"issn-type":[{"value":"1090-3798","type":"print"}],"subject":[],"published":{"date-parts":[[2010,5]]}}}