{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T14:36:37Z","timestamp":1782830197093,"version":"3.54.5"},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2625,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1997,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We identified large\u2010scale heteroplasmic mitochondrial DNA (mtDNA) rearrangements in a 50\u2013year\u2010old woman with an adult\u2010onset progressive myopathy. The predominant mtDNA abnormality was a 21.2\u2013kb duplicated molecule. In addition, a small population of the corresponding partially deleted 4.6\u2013kb molecule was detected. Skeletal muscle histology revealed fibers that were negative for cytochrome <jats:italic>c<\/jats:italic> oxidase (COX) activity and had reduced mtDNA\u2010encoded COX subunits. By single\u2010fiber polymerase chain reaction analysis, COX\u2010negative fibers contained a low number of wild\u2010type or duplicated mtDNA molecules (ie, nondeleted). In situ hybridization demonstrated that the abnormal fibers contained increased amounts of mtDNA compared with normal fibers and that most of the genomes were deleted. We concluded that deleted mtDNA molecules were primarily responsible for the phenotype in this patient.<\/jats:p>","DOI":"10.1002\/ana.410420208","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:04:12Z","timestamp":1104591852000},"page":"180-188","source":"Crossref","is-referenced-by-count":53,"title":["Association of myopathy with large\u2010scale mitochondrial dna duplications and deletions: Which is pathogenic?"],"prefix":"10.1002","volume":"42","author":[{"given":"Giovanni","family":"Manfredi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan","family":"Vu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Bonilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric A.","family":"Schon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"DiMauro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrica","family":"Arnaudo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lewis P.","family":"Rowland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michio","family":"Hirano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)91632-7"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.9.1339"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1958.00940080296016"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010104"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91256-7"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.6.947"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(95)00091-F"},{"key":"e_1_2_1_10_2","first-page":"364","article-title":"Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia","volume":"50","author":"R\u00f6tig A","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.10.1619"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0492-11"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0894-458"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0593-67"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.4.762"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(94)01063-3"},{"key":"e_1_2_1_17_2","first-page":"760","article-title":"Mitochondrial DNA and the origin of caucasians. 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