{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,7]],"date-time":"2026-03-07T16:10:05Z","timestamp":1772899805706,"version":"3.50.1"},"reference-count":22,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T00:00:00Z","timestamp":1553126400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2019.00412","type":"journal-article","created":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T06:37:17Z","timestamp":1553150237000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T&gt;C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2"],"prefix":"10.3389","volume":"10","author":[{"given":"Dominique","family":"Endres","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"S\u00fc\u00df","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon J.","family":"Maier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyn","family":"Friedel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathrin","family":"Nickel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christiane","family":"Ziegler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernd L.","family":"Fiebich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franz X.","family":"Glocker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Friedrich","family":"Stock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl","family":"Egger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Lange","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Dacko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nils","family":"Venhoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Erny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soroush","family":"Doostkam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katalin","family":"Komlosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katharina","family":"Domschke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludger","family":"Tebartz van Elst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2019,3,21]]},"reference":[{"key":"B1","unstructured":"KornblumC\n          Mitochondriale Erkrankungen. S1-Leitlinie der DGN f\u00fcr Diagnostik und Therapie in der Neurologie.2012"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1494","DOI":"10.1126\/science.aac7516","article-title":"Mutations causing mitochondrial disease: what is new and what challenges remain?","volume":"349","author":"Lightowlers","year":"2015","journal-title":"Science"},{"key":"B3","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.ymgme.2015.06.004","article-title":"MELAS syndrome: clinical manifestations, pathogenesis, and treatment options","volume":"116","author":"El-Hattab","year":"2015","journal-title":"Mol Genet Metab"},{"key":"B4","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1016\/j.bbagen.2011.03.015","article-title":"Taro matsuoka for MELAS study group in Japan. MELAS: a nationwide prospective cohort study of 96 patients in Japan","volume":"1820","author":"Yatsuga","year":"2012","journal-title":"Biochim Biophys Acta"},{"key":"B5","first-page":"A1428","article-title":"Autoimmun polyglandul\u00e4re syndrome: aspekte zu pathogenese, prognose und therapie","volume":"99","author":"Brabant","year":"2002","journal-title":"Dtsch Arztebl."},{"key":"B6","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.autrev.2013.07.006","article-title":"Autoimmune polyendocrine syndromes","volume":"13","author":"Cutolo","year":"2014","journal-title":"Autoimmun Rev"},{"key":"B7","doi-asserted-by":"publisher","first-page":"2","DOI":"10.1016\/j.mce.2013.06.004","article-title":"Endocrine disorders in mitochondrial disease","volume":"379","author":"Schaefer","year":"2013","journal-title":"Mol Cell Endocrinol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1210\/js.2017-00434","article-title":"Endocrine disorders in primary mitochondrial disease","volume":"2","author":"Al-Gadi","year":"2018","journal-title":"J Endocr Soc"},{"key":"B9","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1002\/ana.410390612","article-title":"MELAS- and kearns-sayre-type co-mutation [corrected] with myopathy and autoimmune polyendocrinopathy","volume":"39","author":"Ohno","year":"1996","journal-title":"Ann Neurol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"456","DOI":"10.5414\/CN107063","article-title":"Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature","volume":"80","author":"Seidowsky","year":"2013","journal-title":"Clin Nephrol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"e0180450","DOI":"10.1371\/journal.pone.0180450","article-title":"Normative database for separate inner retinal layers thickness using spectral domain optical coherence tomography in caucasian population","volume":"12","author":"Nieves-Moreno","year":"2017","journal-title":"PLoS ONE"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1002\/nbm.2937","article-title":"Improved efficiency on editing MRS of lactate and \u03b3-aminobutyric acid by inclusion of frequency offset corrected inversion pulses at high fields","volume":"26","author":"Arteaga de Castro","year":"2013","journal-title":"NMR Biomed"},{"key":"B13","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1002\/(SICI)1099-1492(199810)11:6<266::AID-NBM530>3.0.CO;2-J","article-title":"Simultaneous in vivo spectral editing and water suppression","volume":"11","author":"Mescher","year":"1998","journal-title":"NMR Biomed"},{"key":"B14","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1002\/mrm.1910300604","article-title":"Estimation of metabolite concentrations from localized in vivo proton NMR spectra","volume":"30","author":"Provencher","year":"1993","journal-title":"Magn Reson Med"},{"key":"B15","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/mrm.1910320304","article-title":"Analysis of macromolecule resonances in 1H NMR spectra of human brain","volume":"32","author":"Behar","year":"1994","journal-title":"Magn Reson Med"},{"key":"B16","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/S0022-510X(98)00170-1","article-title":"Lactate stress test in the diagnosis of mitochondrial myopathy","volume":"159","author":"Finsterer","year":"1998","journal-title":"J Neurol Sci"},{"key":"B17","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1002\/(SICI)1097-4598(199801)21:1<25::AID-MUS4>3.0.CO;2-I","article-title":"Clinical, physiological, and histological features in a kindred with the T3271C melas mutation","volume":"21","author":"Tarnopolsky","year":"1998","journal-title":"Muscle Nerve"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1741","DOI":"10.1212\/01.wnl.0000261929.92478.3e","article-title":"MELAS associated with mutations in the POLG1 gene","volume":"68","author":"Deschauer","year":"2007","journal-title":"Neurology"},{"key":"B19","first-page":"457","article-title":"A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I","volume":"51","author":"Lertrit","year":"1992","journal-title":"Am J Hum Genet"},{"key":"B20","doi-asserted-by":"publisher","first-page":"D385","DOI":"10.1093\/nar\/gkv1047","article-title":"PDBe: improved accessibility of macromolecular structure data from PDB and EMDB","volume":"44","author":"Velankar","year":"2016","journal-title":"Nucleic Acids Res"},{"key":"B21","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1016\/j.braindev.2013.12.009","article-title":"Adrenal insufficiency in a child with MELAS syndrome","volume":"36","author":"Afroze","year":"2014","journal-title":"Brain Dev"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2014-208514","article-title":"Sideroblastic anaemia and primary adrenal insufficiency due to a mitochondrial respiratory chain disorder in the absence of mtDNA deletion","author":"O'Grady","year":"2015","journal-title":"BMJ Case Rep"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2019.00412\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T06:37:32Z","timestamp":1553150252000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2019.00412\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,21]]},"references-count":22,"alternative-id":["10.3389\/fimmu.2019.00412"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2019.00412","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,21]]},"article-number":"412"}}