{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T02:26:22Z","timestamp":1793327182155,"version":"4.5.0"},"reference-count":40,"publisher":"Deutscher Arzte-Verlag GmbH","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"DOI":"10.3238\/arztebl.m2021.0251","type":"journal-article","created":{"date-parts":[[2021,11,8]],"date-time":"2021-11-08T14:17:17Z","timestamp":1636381037000},"source":"Crossref","is-referenced-by-count":27,"title":["Mitochondrial disorders"],"prefix":"10.3238","author":[{"given":"Thomas","family":"Klopstock","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Priglinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cornelia","family":"Kornblum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felix","family":"Distelmaier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"11437","published-online":{"date-parts":[[2021,11,5]]},"reference":[{"key":"10.3238\/arztebl.m2021.0251_ref1","doi-asserted-by":"crossref","unstructured":"Tan J, Wagner M, Stenton SL, et al.: Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. EBioMedicine 2020; 54: 102730","DOI":"10.1016\/j.ebiom.2020.102730"},{"key":"10.3238\/arztebl.m2021.0251_ref2","doi-asserted-by":"crossref","unstructured":"Gorman GS, Schaefer AM, Ng Y, et al.: Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol 2015; 77: 753\u20139","DOI":"10.1002\/ana.24362"},{"key":"10.3238\/arztebl.m2021.0251_ref3","doi-asserted-by":"crossref","unstructured":"Stenton SL, Prokisch H: Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. EBioMedicine 2020; 56: 102784","DOI":"10.1016\/j.ebiom.2020.102784"},{"key":"10.3238\/arztebl.m2021.0251_ref4","unstructured":"Cummings BB, Marshall JL, Tukiainen T, et al.: Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 2017; 9: eaal5209."},{"key":"10.3238\/arztebl.m2021.0251_ref5","doi-asserted-by":"crossref","unstructured":"Kremer LS, Bader DM, Mertes C, et al.: Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun 2017; 8: 15824","DOI":"10.1038\/ncomms15824"},{"key":"10.3238\/arztebl.m2021.0251_ref6","doi-asserted-by":"crossref","unstructured":"Kremer LS, Wortmann SB, Prokisch H: \u201eTranscriptomics\u201c: molecular diagnosis of inborn errors of metabolism via RNA-sequencing.J Inherit Metab Dis 2018; 41: 525\u201332","DOI":"10.1007\/s10545-017-0133-4"},{"key":"10.3238\/arztebl.m2021.0251_ref7","doi-asserted-by":"crossref","unstructured":"Stenton SL, Prokisch H: Advancing genomic approaches to the molecular diagnosis of mitochondrial disease. Essays Biochem 2018; 62: 399\u2013408","DOI":"10.1042\/EBC20170110"},{"key":"10.3238\/arztebl.m2021.0251_ref8","unstructured":"Kornblum C. et al.: Mitochondriale Erkrankungen, S1-Leitlinie, 2021, in: Deutsche Gesellschaft f\u00fcr Neurologie (ed.).: Leitlinien f\u00fcr Diagnostik und Therapie in der Neurologie. https:\/\/dgn.org\/leitlinien\/ll-030-049-mitochondriale-erkrankungen-2021\/ (last accessed on 17 September 2021)."},{"key":"10.3238\/arztebl.m2021.0251_ref9","doi-asserted-by":"crossref","unstructured":"Stefanetti RJ, Blain A, Jimenez-Moreno C, et al.: Measuring the effects of exercise in neuromuscular disorders: a systematic review and meta-analyses. Wellcome Open Res 2020; 5: 84","DOI":"10.12688\/wellcomeopenres.15825.1"},{"key":"10.3238\/arztebl.m2021.0251_ref10","doi-asserted-by":"crossref","unstructured":"Quinzii CM, Emmanuele V, Hirano M: Clinical presentations of coenzyme q10 deficiency syndrome. Mol Syndromol 2014; 5: 141\u20136","DOI":"10.1159\/000360490"},{"key":"10.3238\/arztebl.m2021.0251_ref11","doi-asserted-by":"crossref","unstructured":"Pirinen E, Auranen M, Khan NA, et al.: Niacin cures systemic NAD(+) deficiency and improves muscle performance in adult-onset mitochondrial myopathy. Cell Metab 2020; 31: 1078\u201390","DOI":"10.1016\/j.cmet.2020.04.008"},{"key":"10.3238\/arztebl.m2021.0251_ref12","doi-asserted-by":"crossref","unstructured":"Carelli V, La Morgia C, Klopstock T: Mitochondrial optic neuropathies. In: Mancuso M, Klopstock T (eds): Diagnosis and management of mitochondrial disorders. Cham, Switzerland: Springer Nature Switzerland AG 2019; 125\u201339","DOI":"10.1007\/978-3-030-05517-2_8"},{"key":"10.3238\/arztebl.m2021.0251_ref13","doi-asserted-by":"crossref","unstructured":"Rabenstein R, Catarino C, Rampeltshammer V, et al.: Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber\u2019s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study. Orphanet J Rare Dis 2021; 16: 127","DOI":"10.1186\/s13023-021-01724-5"},{"key":"10.3238\/arztebl.m2021.0251_ref14","doi-asserted-by":"crossref","unstructured":"Klopstock T, Yu-Wai-Man P, Dimitriadis K, et al.: A randomized placebo-controlled trial of idebenone in Leber\u2018s hereditary optic neuropathy. Brain 2011; 134: 2677\u201386","DOI":"10.1093\/brain\/awr170"},{"key":"10.3238\/arztebl.m2021.0251_ref15","doi-asserted-by":"crossref","unstructured":"Catarino CB, von Livonius B, Priglinger C, et al.: Real-world clinical experience with Idebenone in the treatment of Leber Hereditary Optic Neuropathy. J Neuroophthalmol 2020; 40: 558\u201365","DOI":"10.1097\/WNO.0000000000001318"},{"key":"10.3238\/arztebl.m2021.0251_ref16","doi-asserted-by":"crossref","unstructured":"Carelli V, Carbonelli M, de Coo IF, et al.: International consensus statement on the clinical and therapeutic management of Leber Hereditary Optic Neuropathy. J Neuroophthalmol 2017; 37: 371\u201381","DOI":"10.1097\/WNO.0000000000000570"},{"key":"10.3238\/arztebl.m2021.0251_ref17","doi-asserted-by":"crossref","unstructured":"Yu-Wai-Man P, Newman NJ, Carelli V, et al.: Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy. Sci Transl Med 2020; 12: eaaz7423","DOI":"10.1126\/scitranslmed.aaz7423"},{"key":"10.3238\/arztebl.m2021.0251_ref18","doi-asserted-by":"crossref","unstructured":"Newman NJ, Yu-Wai-Man P, Carelli V, et al.: Efficacy and safety of intravitreal gene therapy for Leber Hereditary Optic Neuropathy treated within 6 months of disease onset. Ophthalmology 2021; 128: 649\u201360","DOI":"10.1016\/j.ophtha.2020.12.012"},{"key":"10.3238\/arztebl.m2021.0251_ref19","doi-asserted-by":"crossref","unstructured":"Ng YS, Bindoff LA, Gorman GS, et al.: Consensus-based statements for the management of mitochondrial stroke-like episodes. Wellcome Open Res 2019; 4: 201","DOI":"10.12688\/wellcomeopenres.15599.1"},{"key":"10.3238\/arztebl.m2021.0251_ref20","doi-asserted-by":"crossref","unstructured":"Kaufmann P, Engelstad K, Wei Y, et al.: Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology 2011; 77: 1965\u201371","DOI":"10.1212\/WNL.0b013e31823a0c7f"},{"key":"10.3238\/arztebl.m2021.0251_ref21","doi-asserted-by":"crossref","unstructured":"Nesbitt V, Pitceathly RDS, Turnbull DM, et al.: The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A > G mutation-implications for diagnosis and management. J Neurol Neurosurg Psychiatry 2013; 84: 1107\u201312","DOI":"10.1136\/jnnp-2012-303528"},{"key":"10.3238\/arztebl.m2021.0251_ref22","doi-asserted-by":"crossref","unstructured":"Kaufmann P, Engelstad K, Wei Y, et al.: Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology 2006; 66: 324\u201330","DOI":"10.1212\/01.wnl.0000196641.05913.27"},{"key":"10.3238\/arztebl.m2021.0251_ref23","doi-asserted-by":"crossref","unstructured":"Bates MGD, Bourke JP, Giordano C, d\u2018Amati G, Turnbull DM, Taylor RW: Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management. Eur Heart J 2012; 33: 3023\u201333","DOI":"10.1093\/eurheartj\/ehs275"},{"key":"10.3238\/arztebl.m2021.0251_ref24","doi-asserted-by":"crossref","unstructured":"Malfatti E, Lafor\u00eat P, Jardel C, et al.: High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. Neurology 2013; 80: 100\u20135","DOI":"10.1212\/WNL.0b013e31827b1a2f"},{"key":"10.3238\/arztebl.m2021.0251_ref25","doi-asserted-by":"crossref","unstructured":"Barends M, Verschuren L, Morava E, Nesbitt V, Turnbull D, McFarland R: Causes of Death in Adults with Mitochondrial Disease. JIMD Rep 2016; 26: 103\u201313","DOI":"10.1007\/8904_2015_449"},{"key":"10.3238\/arztebl.m2021.0251_ref26","doi-asserted-by":"crossref","unstructured":"Kabunga P, Lau AK, Phan K, et al.: Systematic review of cardiac-electrical disease in Kearns-Sayre syndrome and mitochondrial cytopathy. Int J Cardiol 2015; 181: 303\u201310","DOI":"10.1016\/j.ijcard.2014.12.038"},{"key":"10.3238\/arztebl.m2021.0251_ref27","doi-asserted-by":"crossref","unstructured":"Yeoh C, Teng H, Jackson J, et al.: Metabolic disorders and anesthesia. Curr Anesthesiol Rep 2019; 9: 340\u201359","DOI":"10.1007\/s40140-019-00345-w"},{"key":"10.3238\/arztebl.m2021.0251_ref28","doi-asserted-by":"crossref","unstructured":"Smith A, Dunne E, Mannion M, et al.: A review of anaesthetic outcomes in patients with genetically confirmed mitochondrial disorders. Eur J Pediatr 2017; 176: 83\u20138","DOI":"10.1007\/s00431-016-2813-8"},{"key":"10.3238\/arztebl.m2021.0251_ref29","doi-asserted-by":"crossref","unstructured":"Doja A: Genetics and the myth of vaccine encephalopathy. Paediatr Child Health 2008; 13: 597\u20139","DOI":"10.1093\/pch\/13.7.597"},{"key":"10.3238\/arztebl.m2021.0251_ref30","doi-asserted-by":"crossref","unstructured":"Kruk SK, Pacheco SE, Koenig MK, Bergerson JRE, Gordon-Lipkin E, McGuire PJ: Vulnerability of pediatric patients with mitochondrial disease to vaccine-preventable diseases. J Allergy Clin Immunol Pract 2019; 7: 2415\u20138","DOI":"10.1016\/j.jaip.2019.03.046"},{"key":"10.3238\/arztebl.m2021.0251_ref31","doi-asserted-by":"crossref","unstructured":"Shenoy S: Coronavirus (Covid-19) sepsis: revisiting mitochondrial dysfunction in pathogenesis, aging, inflammation, and mortality. Inflamm Res 2020; 69: 1077\u201385","DOI":"10.1007\/s00011-020-01389-z"},{"key":"10.3238\/arztebl.m2021.0251_ref32","doi-asserted-by":"crossref","unstructured":"Stendel C, Neuhofer C, Floride E, et al.: Delineating MT-ATP6-associated disease: from isolated neuropathy to early onset neurodegeneration. Neurol Genet 2020; 6: e393","DOI":"10.1212\/NXG.0000000000000393"},{"key":"10.3238\/arztebl.m2021.0251_ref33","doi-asserted-by":"crossref","unstructured":"Yu Wai Man CY, Smith T, Chinnery PF, Turnbull DM, Griffiths PG: Assessment of visual function in chronic progressive external ophthalmoplegia. Eye (Lond) 2006; 20: 564\u20138","DOI":"10.1038\/sj.eye.6701924"},{"key":"10.3238\/arztebl.m2021.0251_ref34","doi-asserted-by":"crossref","unstructured":"Chinnery PF, DiMauro S, Shanske S, et al.: Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004; 364: 592\u20136","DOI":"10.1016\/S0140-6736(04)16851-7"},{"key":"10.3238\/arztebl.m2021.0251_ref35","doi-asserted-by":"crossref","unstructured":"Karaa A, Haas R, Goldstein A, Vockley J, Weaver WD, Cohen BH: Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy. Neurology 2018; 90: e1212\u2013e21","DOI":"10.1212\/WNL.0000000000005255"},{"key":"10.3238\/arztebl.m2021.0251_ref36","doi-asserted-by":"crossref","unstructured":"Finsterer J, Mancuso M, Pareyson D, Burgunder JM, Klopstock T: Mitochondrial disorders of the retinal ganglion cells and the optic nerve. Mitochondrion 2018; 42: 1\u201310","DOI":"10.1016\/j.mito.2017.10.003"},{"key":"10.3238\/arztebl.m2021.0251_ref37","doi-asserted-by":"crossref","unstructured":"Romagnoli M, La Morgia C, Carbonelli M, et al.: Idebenone increases chance of stabilization\/recovery of visual acuity in OPA1-dominant optic atrophy. Ann Clin Transl Neurol 2020; 7: 590\u20134","DOI":"10.1002\/acn3.51026"},{"key":"10.3238\/arztebl.m2021.0251_ref38","doi-asserted-by":"crossref","unstructured":"Baertling F, Rodenburg RJ, Schaper J, et al.: A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry 2014; 85: 257\u201365","DOI":"10.1136\/jnnp-2012-304426"},{"key":"10.3238\/arztebl.m2021.0251_ref39","doi-asserted-by":"crossref","unstructured":"Lake NJ, Compton AG, Rahman S, Thorburn DR: Leigh syndrome: one disorder, more than 75 monogenic causes. Ann Neurol 2016; 79: 190\u2013203","DOI":"10.1002\/ana.24551"},{"key":"10.3238\/arztebl.m2021.0251_ref40","doi-asserted-by":"crossref","unstructured":"Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H: Treatable mitochondrial diseases: cofactor metabolism and beyond. Brain 2017; 140: e11","DOI":"10.1093\/brain\/aww303"}],"container-title":["Deutsches \u00c4rzteblatt international"],"original-title":[],"link":[{"URL":"https:\/\/www.aerzteblatt.de\/10.3238\/arztebl.m2021.0251","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T10:16:38Z","timestamp":1638785798000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.aerzteblatt.de\/10.3238\/arztebl.m2021.0251"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11,5]]},"references-count":40,"URL":"https:\/\/doi.org\/10.3238\/arztebl.m2021.0251","relation":{},"ISSN":["1866-0452"],"issn-type":[{"value":"1866-0452","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,11,5]]}}}