{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T06:26:44Z","timestamp":1784874404755,"version":"3.55.0"},"reference-count":10,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2014,3,28]]},"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:p>\n                    Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A&gt;G, m.3460G&gt;A, m.14484T&gt;C). The remaining cases are due to rare mutations in different genes encoding subunits of the respiratory chain. The proband is a 17-year-old male with symptoms of optic nerve atrophy. No common LHON mutations were found, but detailed sequencing identified a rare, homoplasmic mutation m.3635G&gt;A in the\n                    <jats:italic>ND1<\/jats:italic>\n                    gene.\n                  <\/jats:p>","DOI":"10.1136\/jclinpath-2014-202192","type":"journal-article","created":{"date-parts":[[2014,4,19]],"date-time":"2014-04-19T21:44:05Z","timestamp":1397943845000},"page":"639-641","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":7,"title":["m.3635G&gt;A mutation as a cause of Leber hereditary optic neuropathy"],"prefix":"10.1136","volume":"67","author":[{"given":"Agata","family":"Kodro\u0144","sequence":"first","affiliation":[{"name":"Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej R","family":"Krawczy\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"To\u0144ska","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ewa","family":"Bartnik","sequence":"additional","affiliation":[{"name":"Faculty of Biology, Institute of Genetics and Biotechnology, University of Warsaw, Warsaw, Poland"},{"name":"Institute of Biochemistry and Biophysics Polish Academy of Sciences, Warsaw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2014,4,19]]},"reference":[{"key":"2025120519373607000_67.7.639.1","doi-asserted-by":"publisher","DOI":"10.1007\/s100480100115"},{"key":"2025120519373607000_67.7.639.2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0042242"},{"key":"2025120519373607000_67.7.639.3","first-page":"529","article-title":"Leber hereditary optic neuropathy\u2014a disease with a known molecular basis but a mysterious mechanism of pathology","volume":"44","author":"Mroczek-To\u0144ska","year":"2003","journal-title":"J Appl Genet"},{"key":"2025120519373607000_67.7.639.4","doi-asserted-by":"crossref","first-page":"e74","DOI":"10.1093\/nar\/29.15.e74","article-title":"The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations","volume":"9","author":"Taylor","year":"2001","journal-title":"Nucleic Acids Res"},{"key":"2025120519373607000_67.7.639.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2008.08.002"},{"key":"2025120519373607000_67.7.639.6","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100538"},{"key":"2025120519373607000_67.7.639.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.11.017"},{"key":"2025120519373607000_67.7.639.8","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.05.127"},{"key":"2025120519373607000_67.7.639.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2009.06.051"},{"key":"2025120519373607000_67.7.639.10","doi-asserted-by":"publisher","DOI":"10.1086\/519394"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2014-202192","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T03:37:42Z","timestamp":1764992262000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2014-202192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,19]]},"references-count":10,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2014,6,19]]},"published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1136\/jclinpath-2014-202192"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2014-202192","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"value":"0021-9746","type":"print"},{"value":"1472-4146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,19]]}}}