{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T04:31:08Z","timestamp":1777437068028,"version":"3.51.4"},"reference-count":20,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[1990,6,1]],"date-time":"1990-06-01T00:00:00Z","timestamp":644198400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[1990,6,1]],"date-time":"1990-06-01T00:00:00Z","timestamp":644198400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["ajo.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Ophthalmology"],"published-print":{"date-parts":[[1990,6]]},"DOI":"10.1016\/s0002-9394(14)72429-8","type":"journal-article","created":{"date-parts":[[2014,9,26]],"date-time":"2014-09-26T04:52:27Z","timestamp":1411707147000},"page":"625-631","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":74,"title":["Variable Genotype of Leber's Hereditary Optic Neuropathy Patients"],"prefix":"10.1016","volume":"109","author":[{"given":"Marie T.","family":"Lott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander S.","family":"Voljavec","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas C.","family":"Wallace","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/S0002-9394(14)72429-8_bib1","doi-asserted-by":"crossref","first-page":"1482","DOI":"10.1212\/WNL.34.11.1482","article-title":"New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease","volume":"34","author":"Nikoskelainen","year":"1984","journal-title":"Neurology"},{"key":"10.1016\/S0002-9394(14)72429-8_bib2","first-page":"348","article-title":"Leber's optic atrophy, a possible example of maternal inheritance","volume":"24","author":"Erickson","year":"1972","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/S0002-9394(14)72429-8_bib3","doi-asserted-by":"crossref","first-page":"6715","DOI":"10.1073\/pnas.77.11.6715","article-title":"Maternal inheritance of human mitochondrial DNA","volume":"77","author":"Giles","year":"1980","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/S0002-9394(14)72429-8_bib4","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/BF01544751","article-title":"Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts","volume":"7","author":"Case","year":"1981","journal-title":"Somatic Cell Genet."},{"key":"10.1016\/S0002-9394(14)72429-8_bib5","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"10.1016\/S0002-9394(14)72429-8_bib6","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1056\/NEJM198905183202002","article-title":"A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy","volume":"320","author":"Singh","year":"1989","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/S0002-9394(14)72429-8_bib7","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1016\/S0140-6736(89)92470-7","article-title":"Mitochondrial DNA mutation in a family with Leber's hereditary optic neuropathy","volume":"1","author":"Yoneda","year":"1989","journal-title":"Lancet"},{"key":"10.1016\/S0002-9394(14)72429-8_bib8","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1016\/S0006-291X(88)81291-9","article-title":"Mitochondrial DNA in anucleate human blood cells","volume":"155","author":"Shuster","year":"1988","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/S0002-9394(14)72429-8_bib9","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/BF01560726","article-title":"Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance","volume":"12","author":"Wallace","year":"1986","journal-title":"Somatic Cell Mol. Genet."},{"key":"10.1016\/S0002-9394(14)72429-8_bib10","doi-asserted-by":"crossref","first-page":"xxx","DOI":"10.1016\/S0002-9394(14)72445-6","article-title":"Mitochondria and Leber's hereditary optic neuropathy","volume":"109","author":"Newman","year":"1990","journal-title":"Am. J. Ophthalmol."},{"key":"10.1016\/S0002-9394(14)72429-8_bib11","first-page":"461","article-title":"Computer prediction of peptide maps. Assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels","volume":"38","author":"Wallace","year":"1986","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/S0002-9394(14)72429-8_bib12","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1126\/science.2999980","article-title":"Enzymatic amplification of \u03b2-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia","volume":"230","author":"Saiki","year":"1985","journal-title":"Science"},{"key":"10.1016\/S0002-9394(14)72429-8_bib13","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/0003-2697(83)90418-9","article-title":"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity","volume":"132","author":"Feinberg","year":"1983","journal-title":"Anal. Biochem."},{"key":"10.1016\/S0002-9394(14)72429-8_bib14","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1016\/0003-2697(84)90381-6","article-title":"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity","volume":"137","author":"Feinberg","year":"1984","journal-title":"Addendum. Anal. Biochem."},{"key":"10.1016\/S0002-9394(14)72429-8_bib15","doi-asserted-by":"crossref","first-page":"7952","DOI":"10.1073\/pnas.86.20.7952","article-title":"Spontaneous Kearns-Sayre\/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion. A slip-replication model and metabolic therapy","volume":"86","author":"Shoffner","year":"1989","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/S0002-9394(14)72429-8_bib16","doi-asserted-by":"crossref","first-page":"9436","DOI":"10.1073\/pnas.85.24.9436","article-title":"DNA sequencing with Thermus aquaticus DNA polymerase and direct sequencing of polymerase chain reaction-amplified DNA","volume":"85","author":"Innis","year":"1988","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/S0002-9394(14)72429-8_bib17","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1136\/jmg.26.12.739","article-title":"Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy","volume":"26","author":"Holt","year":"1989","journal-title":"J. Med. Genet."},{"key":"10.1016\/S0002-9394(14)72429-8_bib18","series-title":"Achievements and Perspectives of Mitochondrial Research, vol. II. Biogenesis","first-page":"49","author":"Nauswirth","year":"1985"},{"key":"10.1016\/S0002-9394(14)72429-8_bib19","doi-asserted-by":"crossref","first-page":"8107","DOI":"10.1073\/pnas.85.21.8107","article-title":"Unequal partitioning of bovine mitochondrial genotypes among siblings","volume":"85","author":"Laipis","year":"1985","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"10.1016\/S0002-9394(14)72429-8_bib20","doi-asserted-by":"crossref","first-page":"4686","DOI":"10.1073\/pnas.79.15.4686","article-title":"Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows","volume":"79","author":"Hauswirth","year":"1982","journal-title":"Proc. Natl. Acad. Sci. U.S.A."}],"container-title":["American Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002939414724298?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002939414724298?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T13:20:09Z","timestamp":1757596809000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002939414724298"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,6]]},"references-count":20,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1990,6]]}},"alternative-id":["S0002939414724298"],"URL":"https:\/\/doi.org\/10.1016\/s0002-9394(14)72429-8","relation":{},"ISSN":["0002-9394"],"issn-type":[{"value":"0002-9394","type":"print"}],"subject":[],"published":{"date-parts":[[1990,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Variable Genotype of Leber's Hereditary Optic Neuropathy Patients","name":"articletitle","label":"Article Title"},{"value":"American Journal of Ophthalmology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/S0002-9394(14)72429-8","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 1990 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}