{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,6]],"date-time":"2024-09-06T07:04:13Z","timestamp":1725606253658},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":3874,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1994,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two dizygotic twins with myopathy and leukoencephalopathy are described. The female twin had an incomplete from of MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and strokelike episodes) with severe myopathy, epileptic seizures without strokelike episodes. The male twin presented clinical features exclusively of myopathy and subclinical leukoencephalopathy. The MELAS mitochondrial DNA point mutation (MELAS\u20103243) was found by southern blot and polymerase chain reaction in muscle, skin fibroblasts, and blood of the female twin and was not detected in the skin fibroblasts nor in the blood of the mother, nor in any of the tissues tested in the male twin. The absence of mutation in male twin tissues raises questions about the pathogenetic significance of the mutation in this family.<\/jats:p>","DOI":"10.1002\/ana.410350321","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:35:07Z","timestamp":1104590107000},"page":"365-370","source":"Crossref","is-referenced-by-count":10,"title":["Myo\u2010leukoencephalopathy in twins: Study of 3243\u2010myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation"],"prefix":"10.1002","volume":"35","author":[{"given":"F.","family":"Degoul","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Diry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Pou\u2010Serradell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Lloreta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Marsac","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":"10.1038\/348651a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0925-4439(91)90042-8"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310617"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80599-2"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310408"},{"issue":"3","key":"e_1_2_1_7_2","first-page":"417","article-title":"The \u201cMELAS\u20103243 mutation\u201d in mtDNA is found is many patients with progressive external ophthalmoplegia (PEO)","volume":"42","author":"Ciacci F","year":"1992","journal-title":"Neurology"},{"issue":"3","key":"e_1_2_1_8_2","first-page":"417","article-title":"MELAS point mutation with unusual clinical presentation","volume":"42","author":"Shanske A","year":"1992","journal-title":"Neurology"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410320415"},{"key":"e_1_2_1_10_2","first-page":"35","article-title":"Les formes intermediaires de l'amyotrophie spinale infantile","volume":"134","author":"Pou Seradell A","year":"1978","journal-title":"Rev Neurol"},{"key":"e_1_2_1_11_2","first-page":"497","article-title":"Myopathie et leucoencephalopathie mitochondriales chez des jumeaux de sexe different","volume":"147","author":"Pou Seradell A","year":"1991","journal-title":"Rev Neurol"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.20.8117"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(92)90021-C"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.10.1663"},{"key":"e_1_2_1_15_2","first-page":"655","article-title":"Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)","volume":"50","author":"Sato W","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90040-Q"},{"key":"e_1_2_1_17_2","first-page":"590","article-title":"Respiration\u2010deficient cells are caused by a single point mutation in the mitochondrial tRNALeu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke\u2010like episodes (MELAS)","volume":"49","author":"Kobayashi Y","year":"1991","journal-title":"Am J Hum Genet"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410350321","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410350321","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T18:36:22Z","timestamp":1695839782000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410350321"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,3]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,3]]}},"alternative-id":["10.1002\/ana.410350321"],"URL":"https:\/\/doi.org\/10.1002\/ana.410350321","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,3]]}}}