{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T13:46:09Z","timestamp":1775051169987,"version":"3.50.1"},"reference-count":6,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"accepted":{"date-parts":[[2012,7,10]]},"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1136\/jclinpath-2012-200778","type":"journal-article","created":{"date-parts":[[2012,8,11]],"date-time":"2012-08-11T21:41:14Z","timestamp":1344721274000},"page":"1147-1149","source":"Crossref","is-referenced-by-count":4,"title":["Mitochondrial encephalopathy in a patient with a 13042G>A de novo mutation"],"prefix":"10.1136","volume":"65","author":[{"given":"Jaroslaw","family":"Slawek","sequence":"first","affiliation":[{"name":"Department of Neurological-Psychiatric Nursing, Medical University of Gdansk, Gdansk, Poland"},{"name":"Neurology Department, St Adalbert Hospital, Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Biruta","family":"Kierdaszuk","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Tonska","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Kodron","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michal","family":"Schinwelski","sequence":"additional","affiliation":[{"name":"Department of Neurological-Psychiatric Nursing and Neurology, Medical University of Gdansk, St Adalbert Hospital, Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia Jadwiga","family":"Sitek","sequence":"additional","affiliation":[{"name":"Department of Neurological-Psychiatric Nursing, Medical University of Gdansk, Gdansk, Poland"},{"name":"Neurology Department, St Adalbert Hospital, Gdansk, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Bartnik","sequence":"additional","affiliation":[{"name":"Institute of Genetics and Biotechnology, Faculty of Biology, Institute of Biochemistry and Biophysics, University of Warsaw and Polish Academy of Sciences, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Kaminska","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hubert","family":"Kwiecinski","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical University of Warsaw, Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2012,8,10]]},"reference":[{"key":"2025121403470538000_65.12.1147.1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.3.473"},{"key":"2025121403470538000_65.12.1147.2","unstructured":"Dubowitz V Caroline AS . Muscle biopsy: a practical approach. 3rd edn. Saunders Elsevier, Philadelphia: 2007:3\u201340."},{"key":"2025121403470538000_65.12.1147.3","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1016\/S0076-6879(96)64038-5","article-title":"Detection and quantification of mitochondrial DNA deletions","volume":"264","author":"Soong","year":"1996","journal-title":"Methods Enzymol"},{"key":"2025121403470538000_65.12.1147.4","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.15.e74"},{"key":"2025121403470538000_65.12.1147.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.037507"},{"key":"2025121403470538000_65.12.1147.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.045716"}],"container-title":["Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jclinpath-2012-200778","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T11:47:15Z","timestamp":1765712835000},"score":1,"resource":{"primary":{"URL":"https:\/\/jcp.bmj.com\/lookup\/doi\/10.1136\/jclinpath-2012-200778"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,10]]},"references-count":6,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2012,11,16]]},"published-print":{"date-parts":[[2012,12]]}},"alternative-id":["10.1136\/jclinpath-2012-200778"],"URL":"https:\/\/doi.org\/10.1136\/jclinpath-2012-200778","relation":{},"ISSN":["0021-9746","1472-4146"],"issn-type":[{"value":"0021-9746","type":"print"},{"value":"1472-4146","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,10]]}}}