{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:49Z","timestamp":1787014009348,"version":"build-2736575974"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,3,14]],"date-time":"2018-03-14T00:00:00Z","timestamp":1520985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Karola J\u00f8rgensen Research Foundation"},{"name":"A.P. M\u00f8ller and Chastine Mc-Kinney M\u00f8ller Foundation"},{"name":"Region of Southern Denmark"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>\n                    Carriers of the mitochondrial mutation m.3243A&gt;G presents highly variable phenotypes including mitochondrial encephalomyopathy, lactoacidosis and stroke\u2010like episodes (MELAS). We conducted a follow\u2010up study to evaluate changes in leucocyte heteroplasmy and the clinical phenotypes in m.3243A&gt;G carriers. Leucocyte heteroplasmy was determined by next generation sequencing covered by 100 000X reads in 32 individuals with a median follow\u2010up of 10.2 years. Ten\u2010year clinical follow\u2010up is reported in 46 individuals. The annual leucocyte mutation level declined by \u22120.7 (\u00b10.4) percentage points\/year (\n                    <jats:italic>P<\/jats:italic>\n                    &lt; .0001), and correlated with the level of the initial sample (\n                    <jats:italic>\u03c1<\/jats:italic>\n                    = \u22120.92,\n                    <jats:italic>P<\/jats:italic>\n                    &lt; .0001). Eleven of 46 m.3243A&gt;G carriers died and clinical symptoms progressed. This longitudinal study shows the decline in leucocyte m.3243A&gt;G heteroplasmy associates with the level of the initial sample. Further, there was a high mortality among carriers.\n                  <\/jats:p>","DOI":"10.1111\/cge.13201","type":"journal-article","created":{"date-parts":[[2017,12,20]],"date-time":"2017-12-20T04:02:46Z","timestamp":1513742566000},"page":"925-928","source":"Crossref","is-referenced-by-count":17,"title":["Lecocytes mutation load declines with age in carriers of the m.3243A&gt;G mutation: A 10\u2010year Prospective Cohort"],"prefix":"10.1111","volume":"93","author":[{"given":"J.H.","family":"Langdahl","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Institute of Clinical Research University of Southern Denmark  Odense Denmark"},{"name":"Department of Endocrinology Hospital of Southwest Jutland  Esbjerg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Institute of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5608-1589","authenticated-orcid":false,"given":"M.","family":"Frost","sequence":"additional","affiliation":[{"name":"Institute of Clinical Research University of Southern Denmark  Odense Denmark"},{"name":"Department of Internal Medicine Kolding Hospital  Kolding Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.H.","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Hospital of Southwest Jutland  Esbjerg Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.B.","family":"Yderstr\u00e6de","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Odense University Hospital  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Vissing","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Dun\u00f8","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Thomassen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Institute of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7944-8910","authenticated-orcid":false,"given":"A.L.","family":"Frederiksen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Institute of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/348651a0"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-5491.2008.02359.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2012-303528"},{"issue":"3","key":"e_1_2_6_5_1","first-page":"428","article-title":"A new mitochondrial disease associated with mitochondrial DNA heteroplasmy","volume":"46","author":"Holt IJ","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.43.27189"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9465-2"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2680"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:3<193::AID-HUMU2>3.0.CO;2-C"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/316930"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.043109"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201216"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.039339"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2016.11.002"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehv306"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.2144\/000113389"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.181438"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0235"},{"key":"e_1_2_6_19_1","volume-title":"16S Metagenomic Sequencing Library Preparation\u2014Preparing 18S. 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