{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T09:37:09Z","timestamp":1789205829513,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,21]],"date-time":"2016-11-21T00:00:00Z","timestamp":1479686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Our aim was to determine the prognostic value of urine and blood heteroplasmy in patients with the m.3243A&gt;G mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Adults with the m.3243A&gt;G mutation referred to our institution between January 2000 and May 2014 were retrospectively included. The relationship between their baseline clinical characteristics, their mutation load in urine and blood, and major adverse events (<jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content>s) during follow\u2010up, defined as medical complications requiring a hospitalization or complicated by death, was studied.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 43 patients (age 45.6 \u00b1 13.3 years) included in the study, 36 patients were symptomatic, including nine with evidence of focal brain involvement, and seven were asymptomatic. Over a 5.5 \u00b1 4.0 year mean follow\u2010up duration, 14 patients (33%) developed <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content>s. Patients with <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content>s had a higher mutation load than others in urine (60.1% \u00b1 13.8% vs. 40.6% \u00b1 26.2%, <jats:italic>P<\/jats:italic> = 0.01) and in blood (26.9% \u00b1 18.4% vs. 16.0% \u00b1 12.1%, <jats:italic>P<\/jats:italic> = 0.03). Optimal cutoff values for the prediction of <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content>s were 45% for urine and 35% for blood. In multivariate analysis, mutation load in urine \u226545% [odds ratio 25.3; 95% confidence interval (<jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>) 1.1\u2013567.8; <jats:italic>P<\/jats:italic> = 0.04], left ventricular hypertrophy (odds ratio 16.7; 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 1.3\u2013 222.5; <jats:italic>P<\/jats:italic> = 0.03) and seizures (odds ratio 48.3; 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content> 2.5\u2013933; <jats:italic>P<\/jats:italic> = 0.01) were associated with <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content>s.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Patients with the m.3243A&gt;G mutation are at high risk of <jats:styled-content style=\"fixed-case\">MAE<\/jats:styled-content>s, which can be independently predicted by mutation load in urine \u226545%, a personal history of seizures, and left ventricular hypertrophy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13176","type":"journal-article","created":{"date-parts":[[2016,11,21]],"date-time":"2016-11-21T11:44:37Z","timestamp":1479728677000},"page":"255-261","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Prediction of long\u2010term prognosis by heteroplasmy levels of the m.3243A&gt;G mutation in patients with the <scp>mitochondrial encephalomyopathy, lactic acidosis and stroke\u2010like episodes<\/scp> syndrome"],"prefix":"10.1111","volume":"24","author":[{"given":"A.","family":"Fayssoil","sequence":"first","affiliation":[{"name":"AP\u2010HP Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Reference Centre for Muscle Diseases Paris\u2010Est Myology Institute Paris France"},{"name":"AP\u2010HP Raymond Poincar\u00e9 Hospital Versailles Saint\u2010Quentin en Yvelines University Garches France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Lafor\u00eat","sequence":"additional","affiliation":[{"name":"AP\u2010HP Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Reference Centre for Muscle Diseases Paris\u2010Est Myology Institute Paris France"},{"name":"Myology Institute Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Pierre et Marie Curie Paris 6 University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Bougouin","sequence":"additional","affiliation":[{"name":"INSERM Unit 970 Paris Cardiovascular Research Centre (PARCC) Paris France"},{"name":"Paris\u2010Descartes Sorbonne Paris Cit\u00e9 University Paris France"},{"name":"Medical Intensive Care Unit AP\u2010HP, Cochin Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Jardel","sequence":"additional","affiliation":[{"name":"Biochemistry Department AP\u2010HP Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Paris France"},{"name":"INSERM U1016, CNRS UMR 8104 Institut Cochin Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Lomb\u00e8s","sequence":"additional","affiliation":[{"name":"Paris\u2010Descartes Sorbonne Paris Cit\u00e9 University Paris France"},{"name":"INSERM U1016, CNRS UMR 8104 Institut Cochin Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. M.","family":"B\u00e9cane","sequence":"additional","affiliation":[{"name":"AP\u2010HP Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Reference Centre for Muscle Diseases Paris\u2010Est Myology Institute Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Berber","sequence":"additional","affiliation":[{"name":"AP\u2010HP Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Reference Centre for Muscle Diseases Paris\u2010Est Myology Institute Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"AP\u2010HP Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Reference Centre for Muscle Diseases Paris\u2010Est Myology Institute Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"B\u00e9hin","sequence":"additional","affiliation":[{"name":"AP\u2010HP Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital Reference Centre for Muscle 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