{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T19:50:12Z","timestamp":1793217012014,"version":"4.5.0"},"reference-count":58,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2004,1]]},"DOI":"10.1097\/01.nrl.0000106919.06469.04","type":"journal-article","created":{"date-parts":[[2004,1,19]],"date-time":"2004-01-19T04:06:11Z","timestamp":1074485171000},"page":"8-17","source":"Crossref","is-referenced-by-count":145,"title":["Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes"],"prefix":"10.1097","volume":"10","author":[{"given":"Michio","family":"Hirano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Nishigaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramon","family":"Mart\u00ed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-2-20210211","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/331717a0","article-title":"Deletions of mitochondrial DNA in patients with mitochondrial myopathies","volume":"331","author":"Holt","year":"1988","journal-title":"Nature"},{"key":"R2-2-20210211","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1016\/S0140-6736(88)91632-7","article-title":"Kearns-Sayre syndrome with muscle mitochondrial DNA deletion","volume":"1","author":"Lestienne","year":"1988","journal-title":"Lancet"},{"key":"R3-2-20210211","doi-asserted-by":"crossref","first-page":"1339","DOI":"10.1212\/WNL.38.9.1339","article-title":"Deletions of mitochondrial DNA in Kearns-Sayre syndrome","volume":"38","author":"Zeviani","year":"1988","journal-title":"Neurology"},{"key":"R4-2-20210211","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1126\/science.3201231","article-title":"Mitochondrial DNA mutation associated with Leber\u2019s hereditary optic neuropathy","volume":"242","author":"Wallace","year":"1988","journal-title":"Science"},{"key":"R6-2-20210211","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1038\/ng1095-144","article-title":"Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency","volume":"11","author":"Bourgeron","year":"1995","journal-title":"Nature Genet"},{"key":"R7-2-20210211","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1212\/WNL.44.4.721","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder","volume":"44","author":"Hirano","year":"1994","journal-title":"Neurology"},{"key":"R8-2-20210211","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1212\/WNL.51.4.1086","article-title":"Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome","volume":"51","author":"Papadimitriou","year":"1998","journal-title":"Neurology"},{"key":"R9-2-20210211","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/0022-510X(76)90236-7","article-title":"Congenital oculoskeletal myopathy with abnormal muscle and liver mitochondria","volume":"27","author":"Okamura","year":"1976","journal-title":"J Neurol Sci"},{"key":"R10-2-20210211","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/ajmg.1320150114","article-title":"Oculogastrointestinal muscular dystrophy","volume":"15","author":"Ionasescu","year":"1983","journal-title":"Am J Med Gen"},{"key":"R11-2-20210211","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1007\/BF00688189","article-title":"Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder","volume":"74","author":"Bardosi","year":"1987","journal-title":"Acta Neuropathol Berl"},{"key":"R12-2-20210211","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1212\/WNL.37.6.1046","article-title":"Familial progressive neuronal disease and chronic idiopathic intestinal pseudo-obstruction","volume":"37","author":"Steiner","year":"1987","journal-title":"Neurology"},{"key":"R13-2-20210211","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/ana.410280308","article-title":"Polyneuropathy, ophthalmoplegia, leukoencephalopathy and intestinal pseudo-obstruction: POLIP syndrome","volume":"28","author":"Simon","year":"1990","journal-title":"Ann Neurol"},{"key":"R14-2-20210211","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1002\/mus.880170616","article-title":"Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name","volume":"17","author":"Uncini","year":"1994","journal-title":"Muscle Nerve"},{"key":"R15-2-20210211","first-page":"545","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy with multiple deletions of mitochondrial DNA","volume":"40","author":"Collier","year":"1996","journal-title":"Ann Neurol"},{"key":"R16-2-20210211","first-page":"547","article-title":"MNGIE syndrome in 2 siblings","volume":"153","author":"Debouverie","year":"1997","journal-title":"Rev Neurol Paris"},{"key":"R17-2-20210211","first-page":"917","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy presenting with protein-losing gastroenteropathy and serum copper deficiency: a case report","volume":"10","author":"Hamano","year":"1997","journal-title":"Rinsho Shinkeigaku"},{"key":"R18-2-20210211","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1136\/gut.34.2.279","article-title":"Familial visceral myopathy associated with a mitochondrial myopathy","volume":"34","author":"Lowsky","year":"1993","journal-title":"Gut"},{"key":"R19-2-20210211","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1097\/00000478-199809000-00014","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy. Diagnosis by rectal biopsy","volume":"22","author":"Perez-Atayde","year":"1998","journal-title":"Am J Surg Pathol"},{"key":"R20-2-20210211","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/S0016-5085(99)70080-6","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy: manometric and diagnostic features","volume":"116","author":"Mueller","year":"1999","journal-title":"Gastroenterology"},{"key":"R21-2-20210211","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":"MNGIE: An autosomal recessive disorder due to thymidine phosphorylase mutations","volume":"47","author":"Nishino","year":"2000","journal-title":"Ann Neurol"},{"key":"R22-2-20210211","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1212\/WNL.59.3.455","article-title":"Phenotypic variability in a Spanish family with MNGIE","volume":"59","author":"Gamez","year":"2002","journal-title":"Neurology"},{"key":"R23-2-20210211","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1016\/S0016-5085(83)80133-4","article-title":"A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission","volume":"84","author":"Anuras","year":"1983","journal-title":"Gastroenterology"},{"key":"R24-2-20210211","first-page":"287","article-title":"Progressive external ophthalmoplegia","author":"Rowland","year":"1992","journal-title":"Handbook Clin Neurol"},{"key":"R25-2-20210211","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1007\/BF01307743","article-title":"Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia: a muscular biochemical study of a mitochondrial disorder","volume":"37","author":"Li","year":"1992","journal-title":"Dig Dis Sci"},{"key":"R26-2-20210211","first-page":"818","article-title":"An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities","volume":"42","author":"Ban","year":"1992","journal-title":"Acta Pathol Jpn"},{"key":"R27-2-20210211","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1007\/s004010050863","article-title":"Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy","volume":"96","author":"Kuroiwa","year":"1998","journal-title":"Acta Neuropathol Berl"},{"key":"R28-2-20210211","first-page":"38","article-title":"Clinical and autopsy findings in two cases of MELAS presenting with stroke-like episodes but without clinical myopathy","volume":"12","author":"Nicholl","year":"1993","journal-title":"Clin Neuropathol"},{"key":"R29-2-20210211","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1203\/00006450-199710000-00005","article-title":"A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy","volume":"42","author":"Verma","year":"1997","journal-title":"Pediatr Res"},{"key":"R30-2-20210211","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/0887-8994(96)00046-X","article-title":"Mitochondrial encephalomyopathies presenting with features of autonomic and visceral dysfunction","volume":"14","author":"Zelnik","year":"1996","journal-title":"Pediatr Neurol"},{"key":"R31-2-20210211","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1136\/gut.29.4.544","article-title":"Chronic intestinal pseudoobstruction and ophthalmoplegia in a patient with mitochondrial myopathy","volume":"29","author":"Cervera","year":"1988","journal-title":"Gut"},{"key":"R32-2-20210211","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1212\/WNL.50.1.99","article-title":"Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses","volume":"50","author":"Carrozzo","year":"1998","journal-title":"Neurology"},{"key":"R33-2-20210211","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1086\/301979","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome maps to chromosome 22q13. 32-qter","volume":"63","author":"Hirano","year":"1998","journal-title":"Am J Hum Genet"},{"key":"R34-2-20210211","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1126\/science.283.5402.689","article-title":"Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder","volume":"283","author":"Nishino","year":"1999","journal-title":"Science"},{"key":"R35-2-20210211","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1042\/bj3340001","article-title":"Thymidine phosphorylase, 2-deoxy-D-ribose and angiogenesis","volume":"334","author":"Brown","year":"1998","journal-title":"Biochem J"},{"key":"R36-2-20210211","doi-asserted-by":"crossref","first-page":"4128","DOI":"10.1074\/jbc.M111028200","article-title":"Altered thymidine metabolism due to defects of thymidine phosphorylase","volume":"277","author":"Spinazzola","year":"2002","journal-title":"J Biol Chem"},{"key":"R36A-2-20210211","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/S0006-291X(03)00294-8","article-title":"Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency","volume":"303","author":"Mart","year":"2003","journal-title":"Biochem Biophys Res Commun"},{"key":"R37-2-20210211","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/0304-3940(95)11622-4","article-title":"Neurons of the peripheral nervous system express thymidine phosphorylase","volume":"192","author":"Eccleston","year":"1995","journal-title":"Neurosci Lett"},{"key":"R38-2-20210211","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1002\/path.1711760212","article-title":"Platelet-derived endothelial cell growth factor\/thymidine phosphorylase expression in normal tissue: an immunohistochemical study","volume":"176","author":"Fox","year":"1995","journal-title":"J Pathol"},{"key":"R39-2-20210211","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0167-4889(96)00078-X","article-title":"Tissue distribution of human gliostatin\/platelet-derived endothelial cell growth factor (PD-ECGF) and its drug-induced expression","volume":"1314","author":"Matsukawa","year":"1996","journal-title":"Biochim Biophys Acta"},{"key":"R40-2-20210211","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/0014-5793(92)81428-O","article-title":"Platelet-derived endothelial cell growth factor. Pharmacokinetics, organ distribution and degradation after intravenous administration in rats","volume":"313","author":"Waltenberger","year":"1992","journal-title":"FEBS Lett"},{"key":"R41-2-20210211","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/0304-4165(90)90160-X","article-title":"Purification and tissue distribution of human thymidine phosphorylase; high expression in lymphocytes, reticulocytes and tumors","volume":"1034","author":"Yoshimura","year":"1990","journal-title":"Biochim Biophys Acta"},{"key":"R42-2-20210211","doi-asserted-by":"crossref","first-page":"9305","DOI":"10.1016\/S0021-9258(18)34069-9","article-title":"Unusual compartment of precursors for nuclear and mitochondrial DNA in mouse L cells","volume":"257","author":"Bestwick","year":"1982","journal-title":"J Biol Chem"},{"key":"R43-2-20210211","doi-asserted-by":"crossref","first-page":"9300","DOI":"10.1016\/S0021-9258(18)34068-7","article-title":"Selective expansion of mitochondrial nucleoside triphosphate pools in antimetabolite-treated HeLa cells","volume":"257","author":"Bestwick","year":"1982","journal-title":"J Biol Chem"},{"key":"R44-2-20210211","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1016\/S0021-9258(17)33481-6","article-title":"Thymidylate nucleotide supply for mitochondrial DNA synthesis in mouse L-cells","volume":"249","author":"Bogenhagen","year":"1976","journal-title":"J Biol Chem"},{"key":"R45-2-20210211","doi-asserted-by":"crossref","first-page":"2722","DOI":"10.1016\/S0021-9258(19)44066-0","article-title":"A genetically distinct thymidine kinase in mammalian mitochondrial. Exclusive labeling of mitochondrial deoxyribonucleic acid","volume":"248","author":"Berk","year":"1973","journal-title":"J Biol Chem"},{"key":"R46-2-20210211","doi-asserted-by":"crossref","first-page":"8454","DOI":"10.1074\/jbc.272.13.8454","article-title":"Cloning of the cDNA and chromosomal localization of the gene for human thymidine kinase 2","volume":"13","author":"Johansson","year":"1997","journal-title":"J Biol Chem"},{"key":"R47-2-20210211","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/ng751","article-title":"Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy","volume":"29","author":"Saada","year":"2001","journal-title":"Nat Genet"},{"key":"R48-2-20210211","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/ng746","article-title":"The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA","volume":"29","author":"Mandel","year":"2001","journal-title":"Nat Genet"},{"key":"R49-2-20210211","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng948","article-title":"Mutant deoxynucleotide carrier is associated with congenital microcephaly","volume":"32","author":"Rosenberg","year":"2002","journal-title":"Nat Genet"},{"key":"R50-2-20210211","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1126\/science.289.5480.782","article-title":"Role of adenine nucleotide translocator 1 in mtDNA maintenance","volume":"289","author":"Kaukonen","year":"2000","journal-title":"Science"},{"key":"R51-2-20210211","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1038\/90058","article-title":"Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria","volume":"28","author":"Spelbrink","year":"2001","journal-title":"Nat Genet"},{"key":"R52-2-20210211","doi-asserted-by":"crossref","first-page":"26825","DOI":"10.1074\/jbc.271.43.26825","article-title":"Biochemical analysis of mutant T7 primase\/helicase proteins defective in DNA binding, nucleotide hydrolysis, and the coupling of hydrolysis with DNA unwinding","volume":"271","author":"Washington","year":"1996","journal-title":"J Biol Chem"},{"key":"R53-2-20210211","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1056\/NEJM199004193221602","article-title":"Mitochondrial myopathy caused by long-term zidovudine therapy","volume":"322","author":"Dalakas","year":"1990","journal-title":"New Engl J Med"},{"key":"R54-2-20210211","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/0140-6736(91)91294-5","article-title":"Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy","volume":"337","author":"Arnaudo","year":"1991","journal-title":"Lancet"},{"key":"R55-2-20210211","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1038\/nm0595-417","article-title":"Mitochondrial toxicity of antiviral drugs","volume":"1","author":"Lewis","year":"1995","journal-title":"Nature Med"},{"key":"R56-2-20210211","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1172\/JCI117698","article-title":"Cellular and molecular events leading to mitochondrial toxicity of 1-[2\u2032-deoxy-2\u2032fluoro-\u03b2-D-arabinofuranosyl]-5-iodouracil in human liver cells","volume":"95","author":"Cui","year":"1995","journal-title":"J Clin Invest"},{"key":"R57-2-20210211","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.1016\/S0140-6736(94)92599-2","article-title":"Deaths in US fialuridine trial","volume":"343","author":"Brahams","year":"1994","journal-title":"Lancet"},{"key":"R58-2-20210211","doi-asserted-by":"crossref","first-page":"2125","DOI":"10.1128\/MCB.11.4.2125","article-title":"Organization and chromosomal localization of the human platelet-derived endothelial cell growth factor gene","volume":"11","author":"Hagiwara","year":"1991","journal-title":"Mol Cell Biol"}],"container-title":["The Neurologist"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00127893-200401000-00002","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T15:32:05Z","timestamp":1785857525000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00127893-200401000-00002"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1]]},"references-count":58,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004]]}},"URL":"https:\/\/doi.org\/10.1097\/01.nrl.0000106919.06469.04","relation":{},"ISSN":["1074-7931"],"issn-type":[{"value":"1074-7931","type":"print"}],"subject":[],"published":{"date-parts":[[2004,1]]}}}