{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T16:56:54Z","timestamp":1771001814581,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4878,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1991,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 9\u2010year\u2010old girl and an 11\u2010year\u2010old boy had ptosis, progressive external ophthalmoplegia, pigmentary retinopathy, and sensorineural hearing loss. The girl had diabetes mellitus and the boy had hypoparathyroidism. Both children also developed recurrent vomiting and cerebral infarcts with lactic acidosis. Muscle biopsy specimens showed ragged\u2010red fibers and Southern analysis demonstrated a distinct heteropolasmic deletion of muscle mitochondrial DNA in each patient but no evidence of the point mutation in the transfer RNA<jats:sup>Leu(UUR)<\/jats:sup> generecently identified in mitochondrial encephalomyopathy, lactic acidosis, and stroke\u2010like episodes (MELAS). These 2 children had combined features of Kearns\u2010Sayre syndrome and MELAS, suggesting that mitochondrial DNA deletions occasionally can have pleomorphic clinical expression.<\/jats:p>","DOI":"10.1002\/ana.410290619","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T12:01:19Z","timestamp":1104580879000},"page":"680-683","source":"Crossref","is-referenced-by-count":73,"title":["Deletion of mitochondrial DNA in patients with combined features of kearns\u2010sayre and MELAS syndromes"],"prefix":"10.1002","volume":"29","author":[{"given":"Mary L.","family":"Zupanc","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos T.","family":"Moraes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Shanske","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig B.","family":"Langman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Ciafaloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"DiMauro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170602"},{"key":"e_1_2_1_3_2","first-page":"95","volume-title":"Advances in contemporary neurology","author":"Pavlakis SG","year":"1988"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/109.5.915"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90059-N"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.3.561"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/348651a0"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160409"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.5.751"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.1.24"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280118"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410250611"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688185"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410290619","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410290619","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:50:38Z","timestamp":1698022238000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410290619"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6]]},"references-count":13,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1991,6]]}},"alternative-id":["10.1002\/ana.410290619"],"URL":"https:\/\/doi.org\/10.1002\/ana.410290619","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,6]]}}}