{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:14:47Z","timestamp":1760782487799,"version":"3.40.4"},"reference-count":2,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[1998,1,1]],"date-time":"1998-01-01T00:00:00Z","timestamp":883612800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[1998,1,1]],"date-time":"1998-01-01T00:00:00Z","timestamp":883612800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"published-print":{"date-parts":[[1998]]},"abstract":"<jats:p>We analyzed 29 patients with progressive external ophthalmoparesis (PEO) either alone or as part of a multisystem disorder. Ragged-red fibers were very abundant (10\u201320%) in 15 patients, and many of them were also cytochrome c oxidase-negative. Biochemical analysis of the respiratory chain showed partial defects of single or multiple complexes in 18 patients (64%). Eleven PEO patients (38%) harbored single large-scale mtDNA deletions in muscle, which averaged 5.4\u00a0kb in size and 47% in relative abundance. One PEO patient harbored the A3243G mutation (MELAS mutation) in muscle (63%). Our findings, the first reported in Portuguese patients, confirm that single large-scale mtDNA deletions are a significant cause of PEO. Although ophthalmoparesis was the main clinical feature in the majority of patients, the clinical spectrum is broad, ranging from severe encephalopathy of childhood to a milder, though disabling, muscle weakness in adults.<\/jats:p>","DOI":"10.1159\/000007925","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T15:42:49Z","timestamp":1050421369000},"page":"148-153","source":"Crossref","is-referenced-by-count":14,"title":["Mitochondrial DNA Analysis in Ocular Myopathy"],"prefix":"10.1159","volume":"39","author":[{"given":"Laura","family":"Vilarinho","sequence":"first","affiliation":[]},{"given":"Filippo M.","family":"Santorelli","sequence":"additional","affiliation":[]},{"given":"Maria Lu\u00eds","family":"Cardoso","sequence":"additional","affiliation":[]},{"given":"Teresa","family":"Coelho","sequence":"additional","affiliation":[]},{"given":"Ant\u00f3nio","family":"Guimar\u00e3es","sequence":"additional","affiliation":[]},{"given":"Paula","family":"Coutinho","sequence":"additional","affiliation":[]}],"member":"127","published-online":{"date-parts":[[1998,4,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90040-Q"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(94)90241-0"}],"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/7925","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/7925","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:42:07Z","timestamp":1745469727000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000007925"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998]]},"references-count":2,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1998,4,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000007925","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"type":"print","value":"0014-3022"},{"type":"electronic","value":"1421-9913"}],"subject":[],"published":{"date-parts":[[1998]]}}}