{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T13:56:39Z","timestamp":1765806999989},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2011,12,21]],"date-time":"2011-12-21T00:00:00Z","timestamp":1324425600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2012,3]]},"DOI":"10.1038\/ejhg.2011.238","type":"journal-article","created":{"date-parts":[[2011,12,21]],"date-time":"2011-12-21T17:07:11Z","timestamp":1324487231000},"page":"357-360","source":"Crossref","is-referenced-by-count":6,"title":["The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment"],"prefix":"10.1038","volume":"20","author":[{"given":"Dario","family":"Ronchi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Sciacco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreina","family":"Bordoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika","family":"Raimondi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Ripolone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisa","family":"Fassone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessio","family":"Di Fonzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mafalda","family":"Rizzuti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrizia","family":"Ciscato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Cosi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maura","family":"Servida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Moggio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Corti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nereo","family":"Bresolin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo P","family":"Comi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,12,21]]},"reference":[{"key":"BFejhg2011238_CR1","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1002\/mus.20917","volume":"37","author":"F Scaglia","year":"2008","unstructured":"Scaglia F, Wong LJ : Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve 2008; 37: 150\u2013171.","journal-title":"Muscle Nerve"},{"key":"BFejhg2011238_CR2","doi-asserted-by":"publisher","first-page":"38","DOI":"10.4161\/rna.4.1.4548","volume":"4","author":"E Zifa","year":"2007","unstructured":"Zifa E, Giannouli S, Theotokis P, Stamatis C, Mamuris Z, Stathopoulos C : Mitochondrial tRNA mutations: clinical and functional perturbations. RNA Biol 2007; 4: 38\u201366.","journal-title":"RNA Biol"},{"key":"BFejhg2011238_CR3","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1007\/s004150170094","volume":"248","author":"M Sciacco","year":"2001","unstructured":"Sciacco M, Prelle A, Comi GP et al: Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. J Neurol 2001; 248: 778\u2013788.","journal-title":"J Neurol"},{"key":"BFejhg2011238_CR4","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1002\/ana.410280118","volume":"28","author":"M Zeviani","year":"1990","unstructured":"Zeviani M, Gellera C, Pannacci M et al: Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann Neurol 1990; 28: 94\u201397.","journal-title":"Ann Neurol"},{"key":"BFejhg2011238_CR5","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/S1525-1578(10)60474-6","volume":"5","author":"CT Moraes","year":"2003","unstructured":"Moraes CT, Atencio DP, Oca-Cossio J, Diaz F : Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations. J Mol Diagn 2003; 5: 197\u2013208.","journal-title":"J Mol Diagn"},{"key":"BFejhg2011238_CR6","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1093\/hmg\/3.1.13","volume":"3","author":"M Sciacco","year":"1994","unstructured":"Sciacco M, Bonilla E, Schon EA, Di Mauro S, Moraes CT : Distribution of wild-type and common deletion form of mtDNA on normal and respiration deficient musclefibers from patients with mitochondrial myopathy. Hum Mol Genet 1994; 3: 13\u201319.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2011238_CR7","first-page":"934","volume":"50","author":"CT Moraes","year":"1992","unstructured":"Moraes CT, Ricci E, Bonilla E, DiMauro S, Schon EA : The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. Am J Hum Genet 1992; 50: 934\u2013949.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2011238_CR8","doi-asserted-by":"publisher","first-page":"2906","DOI":"10.1172\/JCI116913","volume":"92","author":"CT Moraes","year":"1993","unstructured":"Moraes CT, Ciacci F, Bonilla E et al: Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? J Clin Invest 1993; 92: 2906\u20132915.","journal-title":"J Clin Invest"},{"key":"BFejhg2011238_CR9","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1023\/A:1025133629685","volume":"26","author":"C Vives-Bauza","year":"2003","unstructured":"Vives-Bauza C, Del Toro M, Solano A, Montoya J, Andreu AL, Roig M : Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA. J Inherit Metab Dis 2003; 26: 507\u2013508.","journal-title":"J Inherit Metab Dis"},{"key":"BFejhg2011238_CR10","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1006\/bbrc.1994.2485","volume":"204","author":"P Seibel","year":"1994","unstructured":"Seibel P, Lauber J, Klopstock T, Marsac C, Kadenbach B, Reichmann H : Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. Biochem Biophys Res Commun 1994; 204: 482\u2013489.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFejhg2011238_CR11","doi-asserted-by":"publisher","first-page":"984","DOI":"10.1093\/brain\/124.5.984","volume":"124","author":"D Sternberg","year":"2001","unstructured":"Sternberg D, Chatzoglou E, Lafor\u00eat P et al: Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. Brain 2001; 124: 984\u2013994.","journal-title":"Brain"},{"key":"BFejhg2011238_CR12","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1016\/j.nmd.2004.09.002","volume":"14","author":"A Spinazzola","year":"2004","unstructured":"Spinazzola A, Carrara F, Mora M, Zeviani M : Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation. Neuromuscul Disord 2004; 14: 815\u2013817.","journal-title":"Neuromuscul Disord"},{"key":"BFejhg2011238_CR13","doi-asserted-by":"publisher","first-page":"1152","DOI":"10.1016\/j.bbrc.2005.02.083","volume":"329","author":"L Coulbault","year":"2005","unstructured":"Coulbault L, Herlicoviez D, Chapon F et al: A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease. Biochem Biophys Res Commun 2005; 329: 1152\u20131154.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFejhg2011238_CR14","doi-asserted-by":"publisher","first-page":"1194","DOI":"10.1001\/archneur.63.8.1194","volume":"63","author":"A Meulemans","year":"2006","unstructured":"Meulemans A, Seneca S, Lagae L et al: A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure. Arch Neurol 2006; 63: 1194\u20131198.","journal-title":"Arch Neurol"},{"key":"BFejhg2011238_CR15","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/j.tig.2004.09.014","volume":"20","author":"R McFarland","year":"2004","unstructured":"McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM : Assigning pathogenicity to mitochondrial tRNA mutations: when \u2018definitely maybe\u2019 is not good enough. Trends Genet 2004; 20: 591\u2013596.","journal-title":"Trends Genet"},{"key":"BFejhg2011238_CR16","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1136\/pn.2008.152611","volume":"8","author":"D Hutchinson","year":"2008","unstructured":"Hutchinson D, Whyte K : Neuromuscular disease and respiratory failure. Pract Neurol 2008; 8: 229\u2013237.","journal-title":"Pract Neurol"},{"key":"BFejhg2011238_CR17","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1378\/chest.101.3.824","volume":"101","author":"D Cros","year":"1992","unstructured":"Cros D, Palliyath S, DiMauro S, Ramirez C, Shamsnia M, Wizer B : Respiratory failure revealing mitochondrial myopathy in adults. Chest 1992; 101: 824\u2013828.","journal-title":"Chest"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011238.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011238","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2011238.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:04:19Z","timestamp":1684429459000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2011238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,12,21]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["BFejhg2011238"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2011.238","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,12,21]]}}}