{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:35:43Z","timestamp":1792460143865,"version":"4.5.0"},"reference-count":41,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T00:00:00Z","timestamp":1354320000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002385","name":"Ministry of Higher Education","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002385","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Biochemical and Biophysical Research Communications"],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1016\/j.bbrc.2012.10.105","type":"journal-article","created":{"date-parts":[[2012,11,3]],"date-time":"2012-11-03T15:46:38Z","timestamp":1351957598000},"page":"31-38","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel m.12908T>A mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease"],"prefix":"10.1016","volume":"429","author":[{"given":"Imen","family":"Chamkha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olfa","family":"Alila-Fersi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emna","family":"Mkaouar-Rebai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hajer","family":"Aloulou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chamseddine","family":"Kifagi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mongia","family":"Hachicha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faiza","family":"Fakhfakh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bbrc.2012.10.105_b0005","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1038\/labinvest.3700484","article-title":"Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease","volume":"86","author":"Thurberg","year":"2006","journal-title":"Lab. Invest."},{"key":"10.1016\/j.bbrc.2012.10.105_b0010","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/01.gim.0000218152.87434.f3","article-title":"Pompe disease diagnosis and management guideline","volume":"8","author":"Kishnani","year":"2006","journal-title":"Genet. Med."},{"key":"10.1016\/j.bbrc.2012.10.105_b0015","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1007\/s00415-005-0922-9","article-title":"The natural course of non-classic Pompe\u2019s disease: a review of 225 published cases","volume":"252","author":"Winkel","year":"2005","journal-title":"J. Neurol."},{"key":"10.1016\/j.bbrc.2012.10.105_b0020","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1002\/mus.21025","article-title":"Clinical features of late-onset Pompe disease: a prospective cohort study","volume":"38","author":"Wokke","year":"2008","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.bbrc.2012.10.105_b0025","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/S0140-6736(08)61555-X","article-title":"Pompe\u2019s disease","volume":"372","author":"Van der Ploeg","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.bbrc.2012.10.105_b0030","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1212\/01.wnl.0000252798.25690.76","article-title":"Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotypes","volume":"68","author":"Kroos","year":"2007","journal-title":"Neurology"},{"key":"10.1016\/j.bbrc.2012.10.105_b0035","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/ajmg.c.31318","article-title":"The genotype\u2013phenotype correlation in Pompe disease","volume":"160C","author":"Kroos","year":"2012","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"10.1016\/j.bbrc.2012.10.105_b0040","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF02435965","article-title":"Mitochondrial abnormalities in the DIDMOAD syndrome","volume":"15","author":"Bundey","year":"1992","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bbrc.2012.10.105_b0045","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1172\/JCI116267","article-title":"Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (Wolfram syndrome, MIM 222300)","volume":"91","author":"R\u00f6tig","year":"1993","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bbrc.2012.10.105_b0050","first-page":"963","article-title":"Autosomal recessive Wolfram syndrome associated with an 8.5kb mtDNA single deletion","volume":"58","author":"Barrientos","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bbrc.2012.10.105_b0055","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.bbrc.2011.06.106","article-title":"The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy","volume":"411","author":"Mezghani","year":"2011","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbrc.2012.10.105_b0060","first-page":"522","article-title":"A simple method for DNA extraction from leukocytes for use in PCR","volume":"13","author":"Lewin","year":"1992","journal-title":"Biotechniques"},{"key":"10.1016\/j.bbrc.2012.10.105_b0065","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.bbrc.2012.10.105_b0070","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"10.1016\/j.bbrc.2012.10.105_b0075","doi-asserted-by":"crossref","first-page":"3389","DOI":"10.1093\/nar\/25.17.3389","article-title":"Gapped BLAST and PSI-BLAST: a new generation of protein database search programs","volume":"25","author":"Altschul","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2012.10.105_b0080","doi-asserted-by":"crossref","first-page":"4876","DOI":"10.1093\/nar\/25.24.4876","article-title":"The Clustal X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools","volume":"24","author":"Thompson","year":"1997","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2012.10.105_b0085","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1146\/annurev.biophys.29.1.291","article-title":"Comparative protein structure modeling of genes and genomes","volume":"29","author":"Mart\u00ed-Renom","year":"2000","journal-title":"Annu. Rev. Biophys. Biomol. Struct."},{"key":"10.1016\/j.bbrc.2012.10.105_b0090","doi-asserted-by":"crossref","first-page":"W407","DOI":"10.1093\/nar\/gkm290","article-title":"ProSA-web: interactive web service for the recognition of errors in three dimensional structures of proteins","volume":"35","author":"Wiederstein","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbrc.2012.10.105_b0095","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/j.mito.2010.09.013","article-title":"MitoTool: a web server for the analysis and retrieval of human mitochondrial DNA sequence variations","volume":"11","author":"Fan","year":"2011","journal-title":"Mitochondrion"},{"key":"10.1016\/j.bbrc.2012.10.105_b0100","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0005-2728(02)00343-2","article-title":"Transmembrane topology of the NuoL, M and N subunits of NADH: quinine oxidoreductase and their homologues among membranebound hydrogenases and bona fide antiporters","volume":"1556","author":"Mathiesen","year":"2002","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2012.10.105_b0105","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/j.bbabio.2009.01.012","article-title":"Architecture of complex I and its implications for electron transfer and proton pumping","volume":"1787","author":"Zickermann","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"issue":"4","key":"10.1016\/j.bbrc.2012.10.105_b0110","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.mito.2007.01.003","article-title":"Fatal manifestation of a de novo ND5 mutation: insights into the pathogenetic mechanisms of mtDNA ND5 gene defects","volume":"7","author":"Zhadanov","year":"2007","journal-title":"Mitochondrion"},{"key":"10.1016\/j.bbrc.2012.10.105_b0115","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1093\/brain\/124.1.209","article-title":"The mitochondrial ND6 gene is a hot spot for mutations that cause Lebers hereditary optic neuropathy","volume":"124","author":"Chinnery","year":"2001","journal-title":"Brain"},{"key":"10.1016\/j.bbrc.2012.10.105_b0120","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jmg.2005.032474","article-title":"Sequence variation in mitochondrial complex I genes: mutation or polymorphism?","volume":"43","author":"Mitchell","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbrc.2012.10.105_b0125","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.nmd.2008.01.003","article-title":"A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance","volume":"18","author":"Downham","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbrc.2012.10.105_b0130","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1016\/j.bbabio.2008.10.001","article-title":"Identification of novel mutations in five patients with mitochondrial encephalomyopathy","volume":"1787","author":"Valente","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbrc.2012.10.105_b0135","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1001\/archneur.62.3.473","article-title":"Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF","volume":"62","author":"Naini","year":"2005","journal-title":"Arch. Neurol."},{"issue":"7","key":"10.1016\/j.bbrc.2012.10.105_b0140","doi-asserted-by":"crossref","first-page":"e38","DOI":"10.1136\/jmg.2005.037507","article-title":"The 13042G>A\/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype","volume":"43","author":"Valentino","year":"2006","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bbrc.2012.10.105_b0145","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1002\/ana.10787","article-title":"De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency","volume":"55","author":"McFarland","year":"2004","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.bbrc.2012.10.105_b0150","doi-asserted-by":"crossref","first-page":"1894","DOI":"10.1093\/brain\/awm114","article-title":"Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy","volume":"130","author":"Malfatti","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.bbrc.2012.10.105_b0155","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1042\/BJ20040256","article-title":"Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin","volume":"383","author":"Bourges","year":"2004","journal-title":"Biochem. J."},{"key":"10.1016\/j.bbrc.2012.10.105_b0160","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1023\/A:1010791204961","article-title":"Mitochondrial genetic control of assembly and function of complex I in mammalian cells","volume":"33","author":"Chomyn","year":"2001","journal-title":"J. Bioenerg. Biomembr."},{"issue":"3","key":"10.1016\/j.bbrc.2012.10.105_b0165","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1128\/MCB.20.3.805-815.2000","article-title":"Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria","volume":"20","author":"Bai","year":"2000","journal-title":"Mol. Cell Biol."},{"issue":"2","key":"10.1016\/j.bbrc.2012.10.105_b0170","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1128\/MCB.15.2.964","article-title":"Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase","volume":"15","author":"Hofhaus","year":"1995","journal-title":"Mol. Cell Biol."},{"key":"10.1016\/j.bbrc.2012.10.105_b0175","doi-asserted-by":"crossref","first-page":"4851","DOI":"10.1093\/hmg\/ddr424","article-title":"Human Pompe disease induced pluripotent stem cells for pathogenesis modeling, drug testing and diseasemarker identification","volume":"20","author":"Huang","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbrc.2012.10.105_b0180","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/S0960-8966(98)00117-5","article-title":"Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle","volume":"9","author":"Fernandez","year":"1999","journal-title":"Neuromuscul. Disord."},{"key":"10.1016\/j.bbrc.2012.10.105_b0185","first-page":"123","article-title":"Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe disease): ultrastructural study","volume":"46","author":"Lewandowska","year":"2008","journal-title":"Folia Neuropathol."},{"key":"10.1016\/j.bbrc.2012.10.105_b0190","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1038\/ncb0910-814","article-title":"Eaten alive: a history of macroautophagy","volume":"12","author":"Yang","year":"2010","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.bbrc.2012.10.105_b0195","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1146\/annurev-biochem-052709-094552","article-title":"Biogenesis and cargo selectivity of autophagosomes","volume":"80","author":"Weidberg","year":"2011","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbrc.2012.10.105_b0200","doi-asserted-by":"crossref","first-page":"425","DOI":"10.18632\/aging.100038","article-title":"Mitochondrial dysfunction and oxidative stress mediate the physiological impairment induced by the disruption of autophagy","volume":"1","author":"Wu","year":"2009","journal-title":"Aging"},{"key":"10.1016\/j.bbrc.2012.10.105_b0205","doi-asserted-by":"crossref","first-page":"155","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\u2013Parkinson\u2013White","volume":"15","author":"Ruiter","year":"2007","journal-title":"Eur. J. Hum. Genet."}],"container-title":["Biochemical and Biophysical Research Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X12020979?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0006291X12020979?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T11:02:04Z","timestamp":1757761324000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0006291X12020979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12]]},"references-count":41,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2012,12]]}},"alternative-id":["S0006291X12020979"],"URL":"https:\/\/doi.org\/10.1016\/j.bbrc.2012.10.105","relation":{},"ISSN":["0006-291X"],"issn-type":[{"value":"0006-291X","type":"print"}],"subject":[],"published":{"date-parts":[[2012,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel m.12908T>A mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease","name":"articletitle","label":"Article Title"},{"value":"Biochemical and Biophysical Research Communications","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bbrc.2012.10.105","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}