{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T21:25:44Z","timestamp":1777325144997,"version":"3.51.4"},"reference-count":24,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[1999,7,1]],"date-time":"1999-07-01T00:00:00Z","timestamp":930787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":5132,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[1999,7]]},"DOI":"10.1086\/302445","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T18:47:41Z","timestamp":1027709261000},"page":"256-260","source":"Crossref","is-referenced-by-count":52,"title":["A Third Locus Predisposing to Multiple Deletions of mtDNA in Autosomal Dominant Progressive External Ophthalmoplegia"],"prefix":"10.1016","volume":"65","author":[{"given":"Jyrki","family":"Kaukonen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo Pietro","family":"Comi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria-Grazia","family":"Piscaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Peltonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anu","family":"Suomalainen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/302445_bib1","first-page":"963","article-title":"Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion","volume":"58","author":"Barrientos","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302445_bib2","doi-asserted-by":"crossref","first-page":"1570","DOI":"10.1172\/JCI118581","article-title":"A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome","volume":"97","author":"Barrientos","year":"1996","journal-title":"J Clin Invest"},{"key":"10.1086\/302445_bib3","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham","year":"1993","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302445_bib5","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/380152a0","article-title":"A comprehensive genetic map of the human genome based on 5,264 microsatellites","volume":"380","author":"Dib","year":"1996","journal-title":"Nature"},{"key":"10.1086\/302445_bib4","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1159\/000133288","article-title":"Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization","volume":"60","author":"Fan","year":"1992","journal-title":"Cytogenet Cell Genet"},{"key":"10.1086\/302445_bib6","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/ng0797-226","article-title":"A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart\/muscle isoform of the adenine nucleotide translocator","volume":"16","author":"Graham","year":"1997","journal-title":"Nat Genet"},{"key":"10.1086\/302445_bib7","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1086\/301979","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter","volume":"63","author":"Hirano","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302445_bib8","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/2441","article-title":"A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)","volume":"20","author":"Inoue","year":"1998","journal-title":"Nat Genet"},{"key":"10.1086\/302445_bib9","first-page":"763","article-title":"An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p","volume":"58","author":"Kaukonen","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302445_bib10","doi-asserted-by":"crossref","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","article-title":"Strategies for multilocus linkage analysis in humans","volume":"81","author":"Lathrop","year":"1984","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302445_bib11","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1002\/(SICI)1097-4598(199606)19:6<751::AID-MUS10>3.0.CO;2-O","article-title":"Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism","volume":"19","author":"Melberg","year":"1996","journal-title":"Muscle Nerve"},{"key":"10.1086\/302445_bib12","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1126\/science.283.5402.689","article-title":"Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder","volume":"283","author":"Nishino","year":"1999","journal-title":"Science"},{"key":"10.1086\/302445_bib13","doi-asserted-by":"crossref","first-page":"4175","DOI":"10.1073\/pnas.86.11.4175","article-title":"Computer-simulation methods in human linkage analysis","volume":"86","author":"Ott","year":"1989","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/302445_bib100","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1038\/ng0994-95","article-title":"Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4","volume":"8","author":"Polymeropoulos","year":"1994","journal-title":"Nat Genet"},{"key":"10.1086\/302445_bib14","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000154222","article-title":"Avoiding recomputation in linkage analysis","volume":"44","author":"Sch\u00e4ffer","year":"1994","journal-title":"Hum Hered"},{"key":"10.1086\/302445_bib15","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1212\/WNL.41.7.1053","article-title":"Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic and biochemical studies","volume":"41","author":"Servidei","year":"1991","journal-title":"Neurology"},{"key":"10.1086\/302445_bib17","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1038\/ng0295-146","article-title":"An autosomal locus predisposing to deletions of mitochondrial DNA","volume":"9","author":"Suomalainen","year":"1995","journal-title":"Nat Genet"},{"key":"10.1086\/302445_bib16","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1172\/JCI115856","article-title":"Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia","volume":"90","author":"Suomalainen","year":"1992","journal-title":"J Clin Invest"},{"key":"10.1086\/302445_bib18","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1212\/WNL.48.5.1244","article-title":"Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease","volume":"48","author":"Suomalainen","year":"1997","journal-title":"Neurology"},{"key":"10.1086\/302445_bib19","first-page":"A204","article-title":"SLINK: a general simulation program for linkage analysis","volume":"47","author":"Weeks","year":"1990","journal-title":"Am J Hum Genet Suppl"},{"key":"10.1086\/302445_bib20","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/0140-6736(90)92148-B","article-title":"Location of facioscapulohumeral muscular dystrophy gene on chromosome 4","volume":"336","author":"Wijmenga","year":"1990","journal-title":"Lancet"},{"key":"10.1086\/302445_bib23","first-page":"904","article-title":"Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease","volume":"47","author":"Zeviani","year":"1990","journal-title":"Am J Hum Genet"},{"key":"10.1086\/302445_bib21","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1212\/WNL.38.8.1339","article-title":"Deletions of mitochondrial DNA in Keyrns-Sayre syndrome","volume":"38","author":"Zeviani","year":"1988","journal-title":"Neurology"},{"key":"10.1086\/302445_bib22","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1038\/339309a0","article-title":"An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region","volume":"339","author":"Zeviani","year":"1989","journal-title":"Nature"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707637525?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707637525?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,11]],"date-time":"2019-04-11T17:22:57Z","timestamp":1555003377000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707637525"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,7]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1999,7]]}},"alternative-id":["S0002929707637525"],"URL":"https:\/\/doi.org\/10.1086\/302445","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[1999,7]]}}}