{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T04:24:22Z","timestamp":1778127862020,"version":"3.51.4"},"reference-count":25,"publisher":"Elsevier BV","issue":"10","license":[{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,10,1]],"date-time":"2012-10-01T00:00:00Z","timestamp":1349049600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2012,10]]},"DOI":"10.1016\/j.ejmg.2012.06.002","type":"journal-article","created":{"date-parts":[[2012,7,7]],"date-time":"2012-07-07T08:46:20Z","timestamp":1341650780000},"page":"552-556","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":29,"title":["Mitochondrial DNA m.3242G\u00a0>\u00a0A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?"],"prefix":"10.1016","volume":"55","author":[{"given":"Saskia B.","family":"Wortmann","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael P.","family":"Champion","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lambert","family":"van den Heuvel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Barth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Trutnau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate","family":"Craig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Lammens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michiel F.","family":"Schreuder","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan A.M.","family":"Smeitink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ron A.","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J.","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2012.06.002_bib1","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1007\/BF02282842","article-title":"Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene","volume":"155","author":"Kishnani","year":"1996","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2012.06.002_bib2","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1002\/ana.410160409","article-title":"Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome","volume":"16","author":"Pavlakis","year":"1984","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ejmg.2012.06.002_bib3","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/348651a0","article-title":"A\u00a0mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"348","author":"Goto","year":"1990","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2012.06.002_bib4","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1111\/j.1651-2227.2006.00158.x","article-title":"Early cardiac involvement in children carrying the A3243G mtDNA mutation","volume":"96","author":"Wortmann","year":"2007","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ejmg.2012.06.002_bib5","first-page":"386","article-title":"Mitochondrial cytopathies and renal tubular acidosis","volume":"11","author":"Pintos-Morell","year":"1997","journal-title":"Pediatr. Nephrol."},{"key":"10.1016\/j.ejmg.2012.06.002_bib6","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.mito.2009.01.005","article-title":"Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders","volume":"9","author":"Mimaki","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ejmg.2012.06.002_bib7","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s10545-009-1061-8","article-title":"Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?","volume":"32","author":"Oppenheim","year":"2009","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2012.06.002_bib8","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1373\/clinchem.2005.062414","article-title":"Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology","volume":"52","author":"Janssen","year":"2006","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ejmg.2012.06.002_bib9","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1182\/blood-2003-07-2446","article-title":"Ineffective hematopoiesis linked with a mitochondrial tRNA mutation (G3242A) in a patient with myelodysplastic syndrome","volume":"103","author":"Gattermann","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.ejmg.2012.06.002_bib10","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1212\/01.wnl.0000267843.10977.4a","article-title":"Homoplasmy, heteroplasmy, and mitochondrial dystonia","volume":"69","author":"McFarland","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2012.06.002_bib11","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.mito.2006.11.025","article-title":"Diagnostic challenges of mitochondrial DNA disorders","volume":"7","author":"Wong","year":"2007","journal-title":"Mitochondrion"},{"key":"10.1016\/j.ejmg.2012.06.002_bib12","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/j.bbadis.2008.02.001","article-title":"The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues","volume":"1782","author":"Fornuskova","year":"2008","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ejmg.2012.06.002_bib13","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1146\/annurev-genet-110410-132531","article-title":"Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases","volume":"45","author":"Suzuki","year":"2011","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.ejmg.2012.06.002_bib14","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1007\/s100380170068","article-title":"Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease","volume":"46","author":"Iwasaki","year":"2001","journal-title":"J.\u00a0Hum. Genet."},{"key":"10.1016\/j.ejmg.2012.06.002_bib15","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1136\/jmg.32.8.654","article-title":"Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness","volume":"32","author":"Manouvrier","year":"1995","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2012.06.002_bib16","doi-asserted-by":"crossref","first-page":"1761","DOI":"10.1212\/WNL.40.11.1761","article-title":"Kearns-Sayre syndrome presenting as renal tubular acidosis","volume":"40","author":"Eviatar","year":"1990","journal-title":"Neurology"},{"key":"10.1016\/j.ejmg.2012.06.002_bib17","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1016\/S0022-3476(05)80648-1","article-title":"Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome","volume":"116","author":"Goto","year":"1990","journal-title":"J.\u00a0Pediatr."},{"key":"10.1016\/j.ejmg.2012.06.002_bib18","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1203\/00006450-199110000-00007","article-title":"Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion","volume":"30","author":"Majander","year":"1991","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.ejmg.2012.06.002_bib19","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF01972970","article-title":"Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions","volume":"154","author":"Tulinius","year":"1995","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2012.06.002_bib20","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1159\/000046239","article-title":"Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome","volume":"21","author":"Katsanos","year":"2001","journal-title":"Am. J. Nephrol."},{"key":"10.1016\/j.ejmg.2012.06.002_bib21","first-page":"364","article-title":"Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia","volume":"50","author":"Rotig","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2012.06.002_bib22","doi-asserted-by":"crossref","first-page":"2995","DOI":"10.1097\/01.ASN.0000095481.24091.C9","article-title":"Genetic features of mitochondrial respiratory chain disorders","volume":"14","author":"Rotig","year":"2003","journal-title":"J.\u00a0Am. Soc. Nephrol."},{"key":"10.1016\/j.ejmg.2012.06.002_bib23","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ajhg.2009.03.018","article-title":"A\u00a0nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease","volume":"84","author":"Duncan","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ejmg.2012.06.002_bib24","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1023\/A:1005694320063","article-title":"Features of carnitine palmitoyltransferase type I deficiency","volume":"24","author":"Olpin","year":"2001","journal-title":"J.\u00a0Inherit. Metab. Dis."},{"key":"10.1016\/j.ejmg.2012.06.002_bib25","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/ajmg.a.31584","article-title":"Sibling cases of Vici syndrome: sleep abnormalities and complications of renal tubular acidosis","volume":"143","author":"Miyata","year":"2007","journal-title":"Am. J. Med. Genet. A"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721212001784?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721212001784?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:39:44Z","timestamp":1761709184000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721212001784"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10]]},"references-count":25,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["S1769721212001784"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.06.002","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2012,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial DNA m.3242G\u00a0>\u00a0A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2012.06.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}