{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T21:21:29Z","timestamp":1768684889983,"version":"3.49.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2012,2,29]],"date-time":"2012-02-29T00:00:00Z","timestamp":1330473600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2012,2,29]],"date-time":"2012-02-29T00:00:00Z","timestamp":1330473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2012,8]]},"DOI":"10.1038\/ejhg.2012.44","type":"journal-article","created":{"date-parts":[[2012,2,29]],"date-time":"2012-02-29T19:52:00Z","timestamp":1330545120000},"page":"897-904","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy"],"prefix":"10.1038","volume":"20","author":[{"given":"Helen AL","family":"Tuppen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin","family":"Naess","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy G","family":"Kennaway","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mazhor","family":"Al-Dosary","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Lesko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John W","family":"Yarham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helene","family":"Bruhn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolf","family":"Wibom","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inger","family":"Nennesmo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard G","family":"Weleber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma L","family":"Blakely","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"McFarland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2012,2,29]]},"reference":[{"key":"BFejhg201244_CR1","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1002\/ana.21217","volume":"63","author":"AM Schaefer","year":"2008","unstructured":"Schaefer AM, McFarland R, Blakely EL et al: Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008; 63: 35\u201339.","journal-title":"Ann Neurol"},{"key":"BFejhg201244_CR2","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/j.ymgme.2004.10.003","volume":"84","author":"R Anitori","year":"2005","unstructured":"Anitori R, Manning K, Quan F et al: Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. Mol Genet Metab 2005; 84: 176\u2013188.","journal-title":"Mol Genet Metab"},{"key":"BFejhg201244_CR3","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":"BFejhg201244_CR4","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":"BFejhg201244_CR5","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1002\/humu.21575","volume":"32","author":"JW Yarham","year":"2011","unstructured":"Yarham JW, Al-Dosary M, Blakely EL et al: A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat 2011; 32: 1319\u20131325.","journal-title":"Hum Mutat"},{"key":"BFejhg201244_CR6","doi-asserted-by":"publisher","first-page":"1800","DOI":"10.2337\/diabetes.47.11.1800","volume":"47","author":"S Lynn","year":"1998","unstructured":"Lynn S, Wardell T, Johnson MA et al: Mitochondrial diabetes: investigation and identification of a novel mutation. Diabetes 1998; 47: 1800\u20131802.","journal-title":"Diabetes"},{"key":"BFejhg201244_CR7","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1086\/302344","volume":"64","author":"FC Mansergh","year":"1999","unstructured":"Mansergh FC, Millington-Ward S, Kennan A et al: Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene. Am J Hum Genet 1999; 64: 971\u2013985.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201244_CR8","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.jns.2010.12.020","volume":"303","author":"E Cardaioli","year":"2011","unstructured":"Cardaioli E, Malfatti E, Da Pozzo P et al: Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene. J Neurol Sci 2011; 303: 142\u2013145.","journal-title":"J Neurol Sci"},{"key":"BFejhg201244_CR9","doi-asserted-by":"publisher","first-page":"e46","DOI":"10.1136\/jmg.2005.040626","volume":"43","author":"LJ Wong","year":"2006","unstructured":"Wong LJ, Yim D, Bai RK et al: A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency. J Med Genet 2006; 43: e46.","journal-title":"J Med Genet"},{"key":"BFejhg201244_CR10","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1038\/sj.ejhg.5201891","volume":"15","author":"M Leveque","year":"2007","unstructured":"Leveque M, Marlin S, Jonard L et al: Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet 2007; 15: 1145\u20131155.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg201244_CR11","doi-asserted-by":"publisher","first-page":"1393","DOI":"10.1093\/nar\/19.7.1393","volume":"19","author":"J Lauber","year":"1991","unstructured":"Lauber J, Marsac C, Kadenbach B, Seibel P : Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. Nucleic Acids Res 1991; 19: 1393\u20131397.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg201244_CR12","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/S0003-2697(02)00424-4","volume":"311","author":"R Wibom","year":"2002","unstructured":"Wibom R, Hagenfeldt L, von Dobeln U : Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples. Anal Biochem 2002; 311: 139\u2013151.","journal-title":"Anal Biochem"},{"key":"BFejhg201244_CR13","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1007\/BF01753355","volume":"21","author":"SL Old","year":"1989","unstructured":"Old SL, Johnson MA : Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem J 1989; 21: 545\u2013555.","journal-title":"Histochem J"},{"key":"BFejhg201244_CR14","doi-asserted-by":"publisher","first-page":"3136","DOI":"10.1073\/pnas.0308710100","volume":"101","author":"A Hansson","year":"2004","unstructured":"Hansson A, Hance N, Dufour E et al: A switch in metabolism precedes increased mitochondrial biogenesis in respiratory chain-deficient mouse hearts. Proc Natl Acad Sci USA 2004; 101: 3136\u20133141.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg201244_CR15","doi-asserted-by":"publisher","first-page":"2660","DOI":"10.1172\/JCI116882","volume":"92","author":"RE Hall","year":"1993","unstructured":"Hall RE, Henriksson KG, Lewis SF, Haller RG, Kennaway NG : Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins. J Clin Invest 1993; 92: 2660\u20132666.","journal-title":"J Clin Invest"},{"key":"BFejhg201244_CR16","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1016\/0076-6879(79)55036-8","volume":"55","author":"DL Stiggall","year":"1979","unstructured":"Stiggall DL, Galante YM, Hatefi Y : Preparation and properties of complex V. Methods Enzymol 1979; 55: 308\u2013315, 819\u2013821.","journal-title":"Methods Enzymol"},{"key":"BFejhg201244_CR17","doi-asserted-by":"publisher","first-page":"1786","DOI":"10.1016\/S0735-1097(03)00300-0","volume":"41","author":"RW Taylor","year":"2003","unstructured":"Taylor RW, Giordano C, Davidson MM et al: A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol 2003; 41: 1786\u20131796.","journal-title":"J Am Coll Cardiol"},{"key":"BFejhg201244_CR18","doi-asserted-by":"publisher","first-page":"3340","DOI":"10.1167\/iovs.09-4659","volume":"51","author":"LC Greaves","year":"2010","unstructured":"Greaves LC, Yu-Wai-Man P, Blakely EL et al: Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO. Invest Ophthalmol Vis Sci 2010; 51: 3340\u20133346.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg201244_CR19","doi-asserted-by":"publisher","first-page":"E74","DOI":"10.1093\/nar\/29.15.e74","volume":"29","author":"RW Taylor","year":"2001","unstructured":"Taylor RW, Taylor GA, Durham SE, Turnbull DM : The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res 2001; 29: E74\u2013E74.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg201244_CR20","doi-asserted-by":"publisher","first-page":"2952","DOI":"10.1093\/brain\/awq232","volume":"133","author":"HA Tuppen","year":"2010","unstructured":"Tuppen HA, Hogan VE, He L et al: The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain 2010; 133: 2952\u20132963.","journal-title":"Brain"},{"key":"BFejhg201244_CR21","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/j.ymeth.2008.09.023","volume":"46","author":"MA Calvaruso","year":"2008","unstructured":"Calvaruso MA, Smeitink J, Nijtmans L : Electrophoresis techniques to investigate defects in oxidative phosphorylation. Methods 2008; 46: 281\u2013287.","journal-title":"Methods"},{"key":"BFejhg201244_CR22","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1002\/ana.20570","volume":"58","author":"N Esteitie","year":"2005","unstructured":"Esteitie N, Hinttala R, Wibom R et al: Secondary metabolic effects in complex I deficiency. Ann Neurol 2005; 58: 544\u2013552.","journal-title":"Ann Neurol"},{"key":"BFejhg201244_CR23","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1002\/ajmg.1392","volume":"106","author":"S DiMauro","year":"2001","unstructured":"DiMauro S, Schon EA : Mitochondrial DNA mutations in human disease. Am J Med Genet 2001; 106: 18\u201326.","journal-title":"Am J Med Genet"},{"key":"BFejhg201244_CR24","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1002\/ajmg.a.30318","volume":"131","author":"R McFarland","year":"2004","unstructured":"McFarland R, Taylor RW, Elson JL, Lightowlers RN, Turnbull DM, Howell N : Proving pathogenicity: when evolution is not enough. Am J Med Genet A 2004; 131: 107\u2013108; author reply 109\u2013110.","journal-title":"Am J Med Genet A"},{"key":"BFejhg201244_CR25","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1016\/j.jmb.2004.02.008","volume":"337","author":"L Levinger","year":"2004","unstructured":"Levinger L, Oestreich I, Florentz C, Morl M : A pathogenesis-associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3\u2032-end processing and CCA addition. J Mol Biol 2004; 337: 535\u2013544.","journal-title":"J Mol Biol"},{"key":"BFejhg201244_CR26","doi-asserted-by":"publisher","first-page":"995","DOI":"10.1016\/S0022-2836(03)00373-5","volume":"328","author":"B Sohm","year":"2003","unstructured":"Sohm B, Frugier M, Brule H, Olszak K, Przykorska A, Florentz C : Towards understanding human mitochondrial leucine aminoacylation identity. J Mol Biol 2003; 328: 995\u20131010.","journal-title":"J Mol Biol"},{"key":"BFejhg201244_CR27","doi-asserted-by":"publisher","first-page":"773","DOI":"10.1042\/BJ20040949","volume":"387","author":"B Bornstein","year":"2005","unstructured":"Bornstein B, Mas JA, Patrono C et al: Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene. Biochem J 2005; 387: 773\u2013778.","journal-title":"Biochem J"},{"key":"BFejhg201244_CR28","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1002\/ana.20004","volume":"55","author":"R McFarland","year":"2004","unstructured":"McFarland R, Schaefer AM, Gardner JL et al: Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation. Ann Neurol 2004; 55: 478\u2013484.","journal-title":"Ann Neurol"},{"key":"BFejhg201244_CR29","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1136\/jmg.2007.051185","volume":"45","author":"HA Tuppen","year":"2008","unstructured":"Tuppen HA, Fattori F, Carrozzo R et al: Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. J Med Genet 2008; 45: 55\u201361.","journal-title":"J Med Genet"},{"key":"BFejhg201244_CR30","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1093\/hmg\/ddr440","volume":"21","author":"E Perli","year":"2012","unstructured":"Perli E, Giordano C, Tuppen HA et al: Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T&gt;C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy. Hum Mol Genet 2012; 21: 85\u2013100.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201244_CR31","doi-asserted-by":"publisher","first-page":"936","DOI":"10.1016\/j.yjmcc.2009.02.011","volume":"46","author":"MM Davidson","year":"2009","unstructured":"Davidson MM, Walker WF, Hernandez-Rosa E, Nesti C : Evidence for nuclear modifier gene in mitochondrial cardiomyopathy. J Mol Cell Cardiol 2009; 46: 936\u2013942.","journal-title":"J Mol Cell Cardiol"},{"key":"BFejhg201244_CR32","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1038\/ng0793-289","volume":"4","author":"TR Prezant","year":"1993","unstructured":"Prezant TR, Agapian JV, Bohlman MC et al: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993; 4: 289\u2013294.","journal-title":"Nat Genet"},{"key":"BFejhg201244_CR33","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1196\/annals.1293.025","volume":"1011","author":"MX Guan","year":"2004","unstructured":"Guan MX : Molecular pathogenetic mechanism of maternally inherited deafness. Ann NY Acad Sci 2004; 1011: 259\u2013271.","journal-title":"Ann NY Acad Sci"},{"key":"BFejhg201244_CR34","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.mito.2009.09.007","volume":"10","author":"J Lu","year":"2010","unstructured":"Lu J, Qian Y, Li Z et al: Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A&gt;G mutation. Mitochondrion 2010; 10: 69\u201381.","journal-title":"Mitochondrion"},{"key":"BFejhg201244_CR35","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1111\/j.1399-0004.2007.00800.x","volume":"71","author":"H Kokotas","year":"2007","unstructured":"Kokotas H, Petersen MB, Willems PJ : Mitochondrial deafness. Clin Genet 2007; 71: 379\u2013391.","journal-title":"Clin Genet"},{"key":"BFejhg201244_CR36","doi-asserted-by":"publisher","first-page":"675","DOI":"10.1016\/j.mito.2004.07.040","volume":"4","author":"N Fischel-Ghodsian","year":"2004","unstructured":"Fischel-Ghodsian N, Kopke RD, Ge X : Mitochondrial dysfunction in hearing loss. Mitochondrion 2004; 4: 675\u2013694.","journal-title":"Mitochondrion"}],"updated-by":[{"DOI":"10.1038\/ejhg.2012.123","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2012,7,19]],"date-time":"2012-07-19T00:00:00Z","timestamp":1342656000000}}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201244.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201244","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201244.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:07:36Z","timestamp":1684429656000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,29]]},"references-count":36,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"alternative-id":["BFejhg201244"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2012.44","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/ejhg.2012.123","asserted-by":"object"}]},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,29]]},"assertion":[{"value":"17 November 2011","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 February 2012","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 February 2012","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 February 2012","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 July 2012","order":5,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":6,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}