{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:27:27Z","timestamp":1787502447182,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,1,16]],"date-time":"2010-01-16T00:00:00Z","timestamp":1263600000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns\u2013Sayre syndrome (KSS). Magnetic resonance imaging (MRI) of the brain revealed normal basal ganglia but bilateral well\u2010circumscribed lesions in the cerebellar peduncles. Enzyme deficiencies in oxidative phosphorylation (OXPHOS) complexes I, IV and V was measured in muscle tissue. Blue native polyacrylamide gel electrophoresis (BN\u2010PAGE) confirmed decreased protein content and activity of these complexes and revealed the presence of two catalytically active complex V sub\u2010complexes. Upon investigation by molecular genetics, the mitochondrial DNA (mtDNA) copy number was found to be elevated and a novel deletion of 3431 bp was found in 80% of muscle mtDNA between positions 7115 and 10546, flanked by a 5 bp direct repeat sequence. In addition, it could also be concluded that the absence of mtDNA\u2010encoded\n                    <jats:italic>ATPase6<\/jats:italic>\n                    and\n                    <jats:italic>ATPase8<\/jats:italic>\n                    genes in this patient clearly resulted in aberrant synthesis of ATP synthase.\n                  <\/jats:p>","DOI":"10.1007\/s10545-009-9020-y","type":"journal-article","created":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T07:29:08Z","timestamp":1263540548000},"page":"55-62","source":"Crossref","is-referenced-by-count":10,"title":["Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia"],"prefix":"10.1002","volume":"33","author":[{"given":"Francois H.","family":"van der Westhuizen","sequence":"first","affiliation":[{"name":"Centre for Human Metabonomics North\u2010West University Potchefstroom South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e9l","family":"Smet","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Paediatric Neurology and Metabolism Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oksana","family":"Levanets","sequence":"additional","affiliation":[{"name":"Centre for Human Metabonomics North\u2010West University Potchefstroom South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madelein","family":"Meissner\u2010Roloff","sequence":"additional","affiliation":[{"name":"Centre for Human Metabonomics North\u2010West University Potchefstroom South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roan","family":"Louw","sequence":"additional","affiliation":[{"name":"Centre for Human Metabonomics North\u2010West University Potchefstroom South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rudy","family":"Van Coster","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Paediatric Neurology and Metabolism Ghent University Hospital Ghent Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izelle","family":"Smuts","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Steve Biko Academic Hospital University of Pretoria Pretoria South Africa"},{"name":"P.O. Box 32781 Totiusdal 0134 South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,1,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1525-1578(10)60595-8"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.5.737"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10540-007-9046-z"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20729"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(95)06145-6"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050838"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/501356"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1522-2683(200208)23:15<2525::AID-ELPS2525>3.0.CO;2-I"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.2214\/AJR.05.0180"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2006.078873"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2004.09.010"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.09.008"},{"key":"e_1_2_7_14_1","first-page":"681","article-title":"Cerebral MR in ophthalmoplegia plus","volume":"15","author":"Leutner C","year":"1994","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10540-007-9035-2"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.9.1339"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.0580"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.3.561"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2005.12.026"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/30.9.e36"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390311"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2004.07.003"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2008.05.003"},{"key":"e_1_2_7_25_1","first-page":"2.9.1","volume-title":"Current protocols of molecular biology","author":"Selden RF","year":"1989"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj1140597"},{"key":"e_1_2_7_27_1","first-page":"259","volume-title":"Cell biology: a laboratory handbook","author":"Smet J","year":"2005"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200900213"},{"key":"e_1_2_7_29_1","first-page":"102","article-title":"The mitochondrial genome: structure, transcription, translation and replication","volume":"1410","author":"Taanman J\u2010W","year":"1999","journal-title":"Biochem Biophys Acta"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.15.e74"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200111000-00020"},{"key":"e_1_2_7_32_1","first-page":"1167","article-title":"MR of the brain in mitochondrial myopathy","volume":"16","author":"Wray SH","year":"1995","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-008-0289-8"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9020-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:22:42Z","timestamp":1694744562000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-9020-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,16]]},"references-count":32,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-009-9020-y"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-9020-y","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,16]]}}}