{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,6]],"date-time":"2025-05-06T05:10:15Z","timestamp":1746508215507},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,5,5]]},"DOI":"10.7759\/cureus.24746","type":"journal-article","created":{"date-parts":[[2022,5,5]],"date-time":"2022-05-05T08:53:57Z","timestamp":1651740837000},"source":"Crossref","is-referenced-by-count":4,"title":["Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes\/Leigh Overlap Syndrome Due to Variant m.13513G&gt;A in MT-ND5"],"prefix":"10.7759","author":[{"given":"Josef","family":"Finsterer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Hayman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(18)30727-X","article-title":"Mitochondrial medicine in the omics era","volume":"391","author":"Rahman J","year":"2018","unstructured":"Rahman J, Rahman S. Mitochondrial medicine in the omics era. Lancet. 2018, 391:2560-74. 10.1016\/S0140-6736(18)30727-X","journal-title":"Lancet"},{"key":"ref2","article-title":"Phenotypic heterogeneity of the m.13513 G>A variant. (In press)","author":"Finsterer J","year":"2022","unstructured":"Finsterer J. Phenotypic heterogeneity of the m.13513 G&gt;A variant. (In press). J Pediatr Genet. 2022,","journal-title":"J Pediatr Genet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3109\/19401736.2014.905860","article-title":"The mitochondrial DNA 10197 G > A mutation causes MELAS\/Leigh overlap syndrome presenting with acute auditory agnosia","volume":"26","author":"Leng Y","year":"2015","unstructured":"Leng Y, Liu Y, Fang X, Li Y, Yu L, Yuan Y, Wang Z. The mitochondrial DNA 10197 G &gt; A mutation causes MELAS\/Leigh overlap syndrome presenting with acute auditory agnosia. Mitochondrial DNA. 2015, 26:208-12. 10.3109\/19401736.2014.905860","journal-title":"Mitochondrial DNA"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03907.x","article-title":"Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation","volume":"53","author":"Van Karnebeek CD","year":"2011","unstructured":"Van Karnebeek CD, Waters PJ, Sargent MA, Mezei MM, Wong LJ, Wang J, St\u00f6ckler-Ipsiroglu S. Expanding the clinical phenotype of the mitochondrial m.13513G&gt;A mutation with the first report of a fatal neonatal presentation. Dev Med Child Neurol. 2011, 53:565-8. 10.1111\/j.1469-8749.2010.03907.x","journal-title":"Dev Med Child Neurol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.7167","article-title":"Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS","volume":"238","author":"Santorelli FM","year":"1997","unstructured":"Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun. 1997, 238:326-8. 10.1006\/bbrc.1997.7167","journal-title":"Biochem Biophys Res Commun"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.648740","article-title":"MELAS\/LS overlap syndrome associated with mitochondrial DNA mutations: clinical, genetic, and radiological studies","volume":"12","author":"Wei Y","year":"2021","unstructured":"Wei Y, Huang Y, Yang Y, Qian M. MELAS\/LS overlap syndrome associated with mitochondrial DNA mutations: clinical, genetic, and radiological studies. Front Neurol. 2021, 12:648740. 10.3389\/fneur.2021.648740","journal-title":"Front Neurol"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-15871-y","article-title":"TALEN-mediated shift of mitochondrial DNA heteroplasmy in MELAS-iPSCs with m.13513G>A mutation","volume":"7","author":"Yahata N","year":"2017","unstructured":"Yahata N, Matsumoto Y, Omi M, Yamamoto N, Hata R. TALEN-mediated shift of mitochondrial DNA heteroplasmy in MELAS-iPSCs with m.13513G&gt;A mutation. Sci Rep. 2017, 7:15557. 10.1038\/s41598-017-15871-y","journal-title":"Sci Rep"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.700898","article-title":"Case report: m.13513 G>A mutation in a Chinese patient with both Leigh syndrome and Wolff-Parkinson-White syndrome","volume":"9","author":"Liang JM","year":"2021","unstructured":"Liang JM, Xin CJ, Wang GL, Wu XM. Case report: m.13513 G&gt;A mutation in a Chinese patient with both Leigh syndrome and Wolff-Parkinson-White syndrome. Front Pediatr. 2021, 9:700898. 10.3389\/fped.2021.700898","journal-title":"Front Pediatr"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1691812","article-title":"Mitochondrial m.13513G>A point mutation in ND5 in a 16-year-old man with Leber hereditary optic neuropathy detected by next-generation sequencing","volume":"8","author":"V\u00e1zquez-Justes D","year":"2019","unstructured":"V\u00e1zquez-Justes D, Carre\u00f1o-Gago L, Garc\u00eda-Arumi E, et al.. Mitochondrial m.13513G&gt;A point mutation in ND5 in a 16-year-old man with Leber hereditary optic neuropathy detected by next-generation sequencing. J Pediatr Genet. 2019, 8:231-4. 10.1055\/s-0039-1691812","journal-title":"J Pediatr Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.33588\/rn.6807.2018393","article-title":"Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene. (Article in Spanish)","volume":"68","author":"Jimenez-Legido M","year":"2019","unstructured":"Jimenez-Legido M, Bernardino-Cuesta B, Lopez-Marin L, Cantarin-Extremera V, Blazquez-Encinar A, Martin-Casanueva MA, Gutierrez-Solana LG. Two new cases of Leigh syndrome caused by mutation m.13513G&gt; A in the MTND5 gene. (Article in Spanish). Rev Neurol. 2019, 68:312-4. 10.33588\/rn.6807.2018393","journal-title":"Rev Neurol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2010.531880","article-title":"Central retinal vein occlusion as the initial manifestation of LHON \/ MELAS overlap syndrome with mitochondrial DNA G13513A mutation\u2014case report and literature review","volume":"32","author":"Hsieh YT","year":"2011","unstructured":"Hsieh YT, Yang MT, Peng YJ, Hsu WC. Central retinal vein occlusion as the initial manifestation of LHON \/ MELAS overlap syndrome with mitochondrial DNA G13513A mutation\u2014case report and literature review. Ophthalmic Genet. 2011, 32:31-8. 10.3109\/13816810.2010.531880","journal-title":"Ophthalmic Genet"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2010.01115.x","article-title":"Phenotypic patterns of MELAS\/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case","volume":"30","author":"Wang Z","year":"2010","unstructured":"Wang Z, Qi XK, Yao S, et al.. Phenotypic patterns of MELAS\/LS overlap syndrome associated with m.13513G&gt;A mutation, and neuropathological findings in one autopsy case. Neuropathology. 2010, 30:606-14. 10.1111\/j.1440-1789.2010.01115.x","journal-title":"Neuropathology"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201735","article-title":"The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and\/or Wolff-Parkinson-White","volume":"15","author":"Ruiter EM","year":"2007","unstructured":"Ruiter EM, Siers MH, van den Elzen C, van Engelen BG, Smeitink JA, Rodenburg RJ, Hol FA. The mitochondrial 13513G&gt;A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and\/or Wolff-Parkinson-White. Eur J Hum Genet. 2007, 15:155-61. 10.1038\/sj.ejhg.5201735","journal-title":"Eur J Hum Genet"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2007.67","article-title":"The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases","volume":"65","author":"Shanske S","year":"2008","unstructured":"Shanske S, Coku J, Lu J, et al.. The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Arch Neurol. 2008, 65:368-72. 10.1001\/archneurol.2007.67","journal-title":"Arch Neurol"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcpc059032","article-title":"Case records of the Massachusetts General Hospital. Case 36-2005 \u2014 A 61-year-old woman with seizure, disturbed gait, and altered mental status","volume":"353","author":"Dickerson BC","year":"2005","unstructured":"Dickerson BC, Holtzman D, Grant PE, Tian D. Case records of the Massachusetts General Hospital. Case 36-2005 \u2014 A 61-year-old woman with seizure, disturbed gait, and altered mental status. N Engl J Med. 2005, 353:2271-80. 10.1056\/NEJMcpc059032","journal-title":"N Engl J Med"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-003-0116-1","article-title":"Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan","volume":"49","author":"Sudo A","year":"2004","unstructured":"Sudo A, Honzawa S, Nonaka I, Goto YI. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J Hum Genet. 2004, 49:92-6. 10.1007\/s10038-003-0116-1","journal-title":"J Hum Genet"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.188","article-title":"The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency","volume":"40","author":"Chol M","year":"2003","unstructured":"Chol M, Lebon S, B\u00e9nit P, et al.. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet. 2003, 40:188-91. 10.1136\/jmg.40.3.188","journal-title":"J Med Genet"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10687","article-title":"Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease","volume":"54","author":"Kirby DM","year":"2003","unstructured":"Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Ann Neurol. 2003, 54:473-8. 10.1002\/ana.10687","journal-title":"Ann Neurol"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000080363.10902.e9","article-title":"Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit","volume":"61","author":"Petruzzella V","year":"2003","unstructured":"Petruzzella V, Di Giacinto G, Scacco S, et al.. Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit. Neurology. 2003, 61:1017-8. 10.1212\/01.wnl.0000080363.10902.e9","journal-title":"Neurology"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200101)49:1<106::aid-ana16>3.0.co;2-t","article-title":"A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients","volume":"49","author":"Corona P","year":"2001","unstructured":"Corona P, Antozzi C, Carrara F, D'Incerti L, Lamantea E, Tiranti V, Zeviani M. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol. 2001, 49:106-10. 10.1002\/1531-8249(200101)49:1&lt;106::aid-ana16&gt;3.0.co;2-t","journal-title":"Ann Neurol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/94164-mitochondrial-encephalopathy-lactic-acidosis-and-stroke-like-episodesleigh-overlap-syndrome-due-to-variant-m13513ga-in-mt-nd5","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:41:31Z","timestamp":1707507691000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/94164-mitochondrial-encephalopathy-lactic-acidosis-and-stroke-like-episodesleigh-overlap-syndrome-due-to-variant-m13513ga-in-mt-nd5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,5,5]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.24746","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2022,5,5]]}}}