{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T11:24:54Z","timestamp":1784805894492,"version":"3.55.0"},"reference-count":24,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004690","name":"R\u00e9publique Tunisienne Minist\u00e8re de la Sant\u00e9 Publique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004690","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004409","name":"Minist\u00e8re de l'Enseignement Superieur de la Recherche Scientifique et de la Technologie","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004409","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008280","name":"University of Angers","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008280","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004794","name":"National Centre for Scientific Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011045","name":"Minist\u00e8re de l'Enseignement sup\u00e9rieur et de la Recherche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011045","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.mito.2025.102071","type":"journal-article","created":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T19:31:16Z","timestamp":1752607876000},"page":"102071","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders"],"prefix":"10.1016","volume":"85","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6705-6461","authenticated-orcid":false,"given":"Abir","family":"Zioudi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ismail","family":"Gouiza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1232-5120","authenticated-orcid":false,"given":"Said","family":"Galai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meriem","family":"Hechmi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hedia","family":"Klaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zouhour","family":"Miladi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thouraya","family":"Ben Younes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanene","family":"Benrhouma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilhem","family":"Ben Youssef-Turki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Souheil","family":"Omar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2736-3349","authenticated-orcid":false,"given":"Guy","family":"Lenaers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rym","family":"Kefi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neziha","family":"Gouider-Khouja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichraf","family":"Kraoua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2025.102071_b0005","doi-asserted-by":"crossref","DOI":"10.1016\/j.clineuro.2023.107712","article-title":"A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy","volume":"229","author":"Altunta\u015f","year":"2023","journal-title":"Clin. Neurol. Neurosurg."},{"key":"10.1016\/j.mito.2025.102071_b0010","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1007\/s00417-004-0914-y","article-title":"Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: A case report","volume":"242","author":"Barboni","year":"2004","journal-title":"Graefe\u2019s Arch. Clin. Exp. Ophthalmol."},{"key":"10.1016\/j.mito.2025.102071_b0015","doi-asserted-by":"crossref","first-page":"e360","DOI":"10.1212\/NXG.0000000000000360","article-title":"Enhancement of cranial nerves, conus medullaris, and nerve roots in POLG mitochondrial disease","volume":"5","author":"Bayat","year":"2019","journal-title":"Neurol. Genet."},{"key":"10.1016\/j.mito.2025.102071_b0020","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.cca.2018.11.003","article-title":"Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion","volume":"488","author":"Felhi","year":"2019","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.mito.2025.102071_b0025","doi-asserted-by":"crossref","first-page":"389","DOI":"10.3390\/jcm7110389","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE-MTDPS1)","volume":"7","author":"Filosto","year":"2018","journal-title":"JCM"},{"key":"10.1016\/j.mito.2025.102071_b0030","doi-asserted-by":"crossref","first-page":"3326","DOI":"10.1093\/brain\/awr245","article-title":"Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy","volume":"134","author":"Garone","year":"2011","journal-title":"Brain"},{"key":"10.1016\/j.mito.2025.102071_b0035","doi-asserted-by":"crossref","first-page":"1595","DOI":"10.1111\/epi.14459","article-title":"Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications","volume":"59","author":"Hikmat","year":"2018","journal-title":"Epilepsia"},{"key":"10.1016\/j.mito.2025.102071_b0040","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1002\/jimd.12300","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network","volume":"44","author":"Hirano","year":"2021","journal-title":"J of Inher Metab Disea"},{"key":"10.1016\/j.mito.2025.102071_b0045","doi-asserted-by":"crossref","first-page":"325","DOI":"10.4103\/aian.AIAN_34_18","article-title":"Leukoencephalopathy in mitochondrial neurogastrointestinal encephalomyopathy-like syndrome with polymerase-gamma mutations","volume":"22","author":"Huang","year":"2019","journal-title":"Ann. Indian Acad. Neurol."},{"key":"10.1016\/j.mito.2025.102071_b0050","doi-asserted-by":"crossref","DOI":"10.17724\/jicna.2020.216","article-title":"Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: A case report","volume":"1","author":"Korinthenberg","year":"2021","journal-title":"JICNA"},{"key":"10.1016\/j.mito.2025.102071_b0055","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1093\/brain\/aws110","article-title":"Microangiopathy in the cerebellum of patients with mitochondrial DNA disease","volume":"135","author":"Lax","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.mito.2025.102071_b0060","series-title":"Diagnosis and Management of Mitochondrial Disorders","first-page":"205","article-title":"Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE)","author":"Li","year":"2019"},{"key":"10.1016\/j.mito.2025.102071_b0065","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1016\/j.nmd.2009.08.013","article-title":"Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity","volume":"19","author":"Massa","year":"2009","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.mito.2025.102071_b0070","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/1531-8249(200006)47:6<792::AID-ANA12>3.0.CO;2-Y","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations","volume":"47","author":"Nishino","year":"2000","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2025.102071_b0075","doi-asserted-by":"crossref","first-page":"669","DOI":"10.3389\/fgene.2018.00669","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy: into the fourth decade, what we have learned so far","volume":"9","author":"Pacitti","year":"2018","journal-title":"Front. Genet."},{"key":"10.1016\/j.mito.2025.102071_b0080","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2024.102740","article-title":"Safety and efficacy of deoxycytidine\/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial","volume":"74","author":"Pekeles","year":"2024","journal-title":"eClinicalMedicine"},{"key":"10.1016\/j.mito.2025.102071_b0085","doi-asserted-by":"crossref","first-page":"1818","DOI":"10.1007\/s00415-014-7428-2","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation","volume":"261","author":"Prasun","year":"2014","journal-title":"J. Neurol."},{"key":"10.1016\/j.mito.2025.102071_b0090","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/s41582-018-0101-0","article-title":"POLG-related disorders and their neurological manifestations","volume":"15","author":"Rahman","year":"2019","journal-title":"Nat. Rev. Neurol."},{"key":"10.1016\/j.mito.2025.102071_b0095","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000209356","article-title":"Polyradiculoneuritis on MRI: An overlooked feature of biallelic POLG gene mutations in infancy","volume":"102","author":"Roux","year":"2024","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2025.102071_b0100","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1007\/s00415-011-6268-6","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: An expanded clinical spectrum of POLG1 mutations","volume":"259","author":"Tang","year":"2012","journal-title":"J. Neurol."},{"key":"10.1016\/j.mito.2025.102071_b0105","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1038\/sj.ejhg.5201002","article-title":"Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy","volume":"11","author":"Van Goethem","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.mito.2025.102071_b0110","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1212\/WNL.59.6.926","article-title":"Multiple mtDNA deletions with features of MNGIE","volume":"59","author":"Vissing","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.mito.2025.102071_b0115","article-title":"Kearns\u2013Sayre syndrome: A case series of 35 adults and children","volume":"325","author":"Wittich","year":"2014","journal-title":"IJGM"},{"key":"10.1016\/j.mito.2025.102071_b0120","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.jocn.2018.10.054","article-title":"Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)","volume":"61","author":"Yasuda","year":"2019","journal-title":"J. Clin. Neurosci."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724925000686?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724925000686?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T04:20:03Z","timestamp":1769314803000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724925000686"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":24,"alternative-id":["S1567724925000686"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2025.102071","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2025.102071","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 Elsevier B.V. and Mitochondria Research Society. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"102071"}}