{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T19:46:56Z","timestamp":1762458416912},"reference-count":12,"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":2138,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1975, we presented the results of a study on a family with a constellation of features that included a chronic spinocerebellar syndrome, neuropathologically proven Leigh syndrome, and sudden death in infancy or childhood affecting several members over three generations. Inheritance was thought to be autosomal dominant. Twenty years later, we reinterpreted the inheritance pattern as maternal. Mitochondrial DNA (mtDNA) extracted from paraffin\u2010embedded brain samples from the proband revealed the A8344G myoclonic epilepsy and ragged\u2010red fiber (MERRF) mutation as the molecular basis for this multifaceted neurological syndrome. This re\u2010evaluation of archival material is an instructive example of \u201cmedical archeopathology\u201d.<\/jats:p>","DOI":"10.1002\/ana.410440616","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:27:51Z","timestamp":1104589671000},"page":"962-964","source":"Crossref","is-referenced-by-count":27,"title":["The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin\u2010embedded sections: Revisiting the past"],"prefix":"10.1002","volume":"44","author":[{"given":"F. M.","family":"Santorelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Tanji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Shanske","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Krishna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. E.","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. S.","family":"Greenwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"DiMauro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. C.","family":"de Vivo","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":"10.1007\/BF00294355"},{"key":"e_1_2_1_3_2","first-page":"47","article-title":"An autosomal dominant form of necrotizing encephalomyelopathy resembling a spinocerebellar degeneration","volume":"100","author":"Greenwood RS","year":"1975","journal-title":"Trans Am Neurol Assoc"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.14.3.216"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.1.219"},{"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":"10.1212\/WNL.43.6.1200"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1096\/fasebj.6.10.1634041"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5254.1423"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1771"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199605000-00028"},{"key":"e_1_2_1_12_2","first-page":"852","article-title":"Heteroplasmic mtDNA mutation (TG) at 8993 can cause Leigh's disease when the percentage of abnormal mtDNA is high","volume":"50","author":"Tatuch Y","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_2","first-page":"817","article-title":"The mutation at nt8993 of mitochondrial DNA is a common cause of Leigh's syndrome","volume":"34","author":"Santorelli FM","year":"1973","journal-title":"Ann Neurol"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410440616","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410440616","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T22:12:41Z","timestamp":1698531161000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410440616"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,12]]},"references-count":12,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1998,12]]}},"alternative-id":["10.1002\/ana.410440616"],"URL":"https:\/\/doi.org\/10.1002\/ana.410440616","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,12]]}}}