{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T14:36:35Z","timestamp":1782830195754,"version":"3.54.5"},"reference-count":26,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neuroepidemiology"],"published-print":{"date-parts":[[2012]]},"abstract":"<i>Background:<\/i> Progressive external ophthalmoplegia (PEO) is a common phenotype of mitochondrial disease. Molecu- lar etiologies include sporadic, large-scale deletions in mitochondrial DNA (mtDNA), multiple mtDNA deletions secondary to autosomal dominant or recessive mutations and mtDNA point mutations. <i>Methods:<\/i> We studied the prevalence and clinical and genetic characteristics of PEO in a defined population in southwestern Finland. A total of 620 patients were first identified from the patient registry at the Turku University Hospital over an 18-year period. The medical records of these patients were scrutinized, and those with clinical features compatible with PEO were ascertained. <i>Results:<\/i> We identified 10 patients with possible PEO. The patients were examined clinically, and DNA was analyzed for mtDNA deletions and for the m.3243A>G and m.8344A>G mtDNA point mutations. The <i>ANT1<\/i>, <i>PEO1<\/i>, <i>POLG1<\/i> and <i>POLG2<\/i> genes were sequenced. We confirmed the clinical diagnosis of PEO in 6 patients. Large-scale mtDNA deletions were detected in 3 out of 6 PEO patients and mutations in the <i>POLG1<\/i> gene in 1 out of 6. We did not find any mutations in the <i>ANT1<\/i>, <i>PEO1<\/i> or <i>POLG2<\/i> genes. <i>Conclusions:<\/i> Our results suggest that molecular investigation of patients with PEO, either sporadic or familial, should start with an analysis for mtDNA deletions, followed by an analysis of the <i>POLG1<\/i> gene.<\/jats:p>","DOI":"10.1159\/000336112","type":"journal-article","created":{"date-parts":[[2012,2,28]],"date-time":"2012-02-28T14:02:24Z","timestamp":1330437744000},"page":"114-119","source":"Crossref","is-referenced-by-count":6,"title":["Progressive External Ophthalmoplegia in Southwestern Finland: A Clinical and Genetic Study"],"prefix":"10.1159","volume":"38","author":[{"given":"Mika H.","family":"Martikainen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reetta","family":"Hinttala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matias","family":"R\u00f6ytt\u00e4","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satu","family":"J\u00e4\u00e4skel\u00e4inen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Wendelin-Saarenhovi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riitta","family":"Parkkola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari","family":"Majamaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2012,2,24]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1385%2FNMM%3A3%3A3%3A129"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2F331717a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.410260603"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093%2Fnar%2F19.7.1393"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2F0960-8966%2893%2990040-Q"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038%2F339309a0"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0295-146"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2F90058"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.289.5480.782"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2F90034"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fana.10278"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1086%2F504303"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawm272"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093%2Fbrain%2Fawm298"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1212%2F01.wnl.0000335931.54095.0a"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2009.07.009"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1212%2FWNL.0b013e31821e558b"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1086%2F301959"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1086%2F444548"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.2307%2F2981886"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00415-008-0926-3"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1212%2F01.wnl.0000210486.32196.24"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1212%2F01.WNL.0000154518.31302.ED"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1001%2Farchneurol.2007.9"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1001%2Farchneur.61.11.1777"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1136%2Fbcr.01.2010"}],"container-title":["Neuroepidemiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/336112","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/336112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:04:42Z","timestamp":1745435082000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000336112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":26,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2012,3,1]]},"published-print":{"date-parts":[[2012,3,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000336112","archive":["Portico"],"relation":{},"ISSN":["0251-5350","1423-0208"],"issn-type":[{"value":"0251-5350","type":"print"},{"value":"1423-0208","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}