{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,8]],"date-time":"2024-09-08T19:40:46Z","timestamp":1725824446591},"publisher-location":"Berlin, Heidelberg","reference-count":40,"publisher":"Springer Berlin Heidelberg","isbn-type":[{"type":"print","value":"9783662474662"},{"type":"electronic","value":"9783662474679"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015]]},"DOI":"10.1007\/8904_2015_438","type":"book-chapter","created":{"date-parts":[[2015,5,4]],"date-time":"2015-05-04T16:39:46Z","timestamp":1430757586000},"page":"91-100","source":"Crossref","is-referenced-by-count":9,"title":["Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes"],"prefix":"10.1007","author":[{"given":"Tuomas","family":"Komulainen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milla-Riikka","family":"Hautakangas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reetta","family":"Hinttala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salla","family":"Pakanen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vesa","family":"V\u00e4h\u00e4sarja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petri","family":"Lehenkari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e4ivi","family":"Olsen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e4ivi","family":"Vieira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"Saarenp\u00e4\u00e4-Heikkil\u00e4","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Palmio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannu","family":"Tuominen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietari","family":"Kinnunen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kari","family":"Majamaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heikki","family":"Rantala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Uusimaa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,5,5]]},"reference":[{"key":"438_CR1","doi-asserted-by":"publisher","first-page":"300","DOI":"10.1016\/j.ymgme.2009.06.012","volume":"98","author":"B Acham-Roschitz","year":"2009","unstructured":"Acham-Roschitz B, Plecko B, Lindbichler F, Bittner R, Mache CJ, Sperl W, Mayr JA (2009) A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. Mol Genet Metab 98:300\u2013304","journal-title":"Mol Genet Metab"},{"key":"438_CR2","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/j.mito.2006.11.010","volume":"7","author":"S Alberio","year":"2007","unstructured":"Alberio S, Mineri R, Tiranti V, Zeviani M (2007) Depletion of mtDNA: syndromes and genes. Mitochondrion 7:6\u201312","journal-title":"Mitochondrion"},{"key":"438_CR3","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1016\/j.nmd.2008.04.006","volume":"18","author":"B Bornstein","year":"2008","unstructured":"Bornstein B, Area E, Flanigan KM et al (2008) Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord 18:453\u2013459","journal-title":"Neuromuscul Disord"},{"issue":"118","key":"438_CR4","doi-asserted-by":"publisher","first-page":"118ra10","DOI":"10.1126\/scitranslmed.3003310","volume":"4","author":"SE Calvo","year":"2012","unstructured":"Calvo SE, Compton AG, Hershman SG et al (2012) Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 4(118):118ra10. doi:\n                  10.1126\/scitranslmed.3003310","journal-title":"Sci Transl Med"},{"key":"438_CR5","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1093\/brain\/awl389","volume":"130","author":"R Carrozzo","year":"2007","unstructured":"Carrozzo R, Dionisi-Vici C, Steuerwald U et al (2007) SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain 130:862\u2013874","journal-title":"Brain"},{"key":"438_CR6","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/j.bbabio.2008.10.007","volume":"1787","author":"SS Chan","year":"2009","unstructured":"Chan SS, Copeland WC (2009) DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. Biochim Biophys Acta 1787:312\u2013319","journal-title":"Biochim Biophys Acta"},{"key":"438_CR7","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1016\/S0140-6736(04)16851-7","volume":"364","author":"PF Chinnery","year":"2004","unstructured":"Chinnery PF, DiMauro S, Shanske S et al (2004) Risk of developing a mitochondrial DNA deletion disorder. Lancet 364:592\u2013596","journal-title":"Lancet"},{"key":"438_CR8","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1002\/humu.9519","volume":"29","author":"DP Dimmock","year":"2008","unstructured":"Dimmock DP, Zhang Q, Dionisi-Vici C et al (2008) Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 29:330\u2013331","journal-title":"Hum Mutat"},{"key":"438_CR9","doi-asserted-by":"publisher","first-page":"1119","DOI":"10.1373\/clinchem.2009.141549","volume":"56","author":"D Dimmock","year":"2010","unstructured":"Dimmock D, Tang LY, Schmitt ES, Wong LJ (2010) Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem 56:1119\u20131127","journal-title":"Clin Chem"},{"key":"438_CR10","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1007\/s13311-013-0177-6","volume":"10","author":"AW El-Hattab","year":"2013","unstructured":"El-Hattab AW, Scaglia F (2013) Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics 10:186\u2013198","journal-title":"Neurotherapeutics"},{"key":"438_CR11","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1086\/430843","volume":"76","author":"O Elpeleg","year":"2005","unstructured":"Elpeleg O, Miller C, Hershkovitz E et al (2005) Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76:1081\u20131086","journal-title":"Am J Hum Genet"},{"key":"438_CR12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gnf067","volume":"30","author":"L He","year":"2002","unstructured":"He L, Chinnery PF, Durham SE et al (2002) Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res 30, e68","journal-title":"Nucleic Acids Res"},{"key":"438_CR13","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/j.spen.2013.10.010","volume":"20","author":"CD Katsetos","year":"2013","unstructured":"Katsetos CD, Koutzaki S, Melvin JJ (2013) Mitochondrial dysfunction in neuromuscular disorders. Semin Pediatr Neurol 20:202\u2013215","journal-title":"Semin Pediatr Neurol"},{"key":"438_CR14","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.nmd.2008.11.014","volume":"19","author":"G Kollberg","year":"2009","unstructured":"Kollberg G, Darin N, Benan K et al (2009) A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. Neuromuscul Disord 19:147\u2013150","journal-title":"Neuromuscul Disord"},{"key":"438_CR15","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1016\/j.ceb.2013.02.010","volume":"25","author":"B Kornmann","year":"2013","unstructured":"Kornmann B (2013) The molecular hug between the ER and the mitochondria. Curr Opin Cell Biol 25:443\u2013448","journal-title":"Curr Opin Cell Biol"},{"key":"438_CR16","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1196\/annals.1395.024","volume":"1100","author":"KJ Krishnan","year":"2007","unstructured":"Krishnan KJ, Greaves LC, Reeve AK, Turnbull DM (2007) Mitochondrial DNA mutations and aging. Ann N Y Acad Sci 1100:227\u2013240","journal-title":"Ann N Y Acad Sci"},{"key":"438_CR17","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1038\/ng.f.94","volume":"40","author":"KJ Krishnan","year":"2008","unstructured":"Krishnan KJ, Reeve AK, Samuels DC et al (2008) What causes mitochondrial DNA deletions in human cells? Nat Genet 40:275\u2013279","journal-title":"Nat Genet"},{"key":"438_CR18","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1016\/j.nmd.2009.11.013","volume":"20","author":"N Lesko","year":"2010","unstructured":"Lesko N, Naess K, Wibom R et al (2010) Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. Neuromuscul Disord 20:198\u2013203","journal-title":"Neuromuscul Disord"},{"key":"438_CR19","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1016\/S0014-5793(97)01374-4","volume":"418","author":"AM Lezza","year":"1997","unstructured":"Lezza AM, Cormio A, Gerardi P et al (1997) Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy. FEBS Lett 418:167\u2013170","journal-title":"FEBS Lett"},{"key":"438_CR20","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1038\/ng746","volume":"29","author":"H Mandel","year":"2001","unstructured":"Mandel H, Szargel R, Labay V et al (2001) The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 29:337\u2013341","journal-title":"Nat Genet"},{"key":"438_CR21","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1016\/j.mito.2007.09.001","volume":"7","author":"KJ Morten","year":"2007","unstructured":"Morten KJ, Ashley N, Wijburg F et al (2007) Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletion. Mitochondrion 7:386\u2013395","journal-title":"Mitochondrion"},{"key":"438_CR22","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1136\/jnnp.2006.112250","volume":"79","author":"MM Muqit","year":"2008","unstructured":"Muqit MM, Larner AJ, Sweeney MG et al (2008) Multiple mitochondrial DNA deletions in monozygotic twins with OPMD. J Neurol Neurosurg Psychiatry 79:68\u201371","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"438_CR23","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1126\/science.283.5402.689","volume":"283","author":"I Nishino","year":"1999","unstructured":"Nishino I, Spinazzola A, Hirano M (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283:689\u2013692","journal-title":"Science"},{"key":"438_CR24","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1002\/ajmg.a.20006","volume":"118A","author":"F Odoardi","year":"2003","unstructured":"Odoardi F, Rana M, Broccolini A et al (2003) Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions. Am J Med Genet A 118A:247\u2013254","journal-title":"Am J Med Genet A"},{"key":"438_CR25","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1086\/519222","volume":"81","author":"E Ostergaard","year":"2007","unstructured":"Ostergaard E, Christensen E, Kristensen E, Mogensen B, Duno M, Shoubridge EA, Wibrand F (2007a) Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion. Am J Hum Genet 81:383\u2013387","journal-title":"Am J Hum Genet"},{"key":"438_CR26","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1093\/brain\/awl383","volume":"130","author":"E Ostergaard","year":"2007","unstructured":"Ostergaard E, Hansen FJ, Sorensen N et al (2007b) Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130:853\u2013861","journal-title":"Brain"},{"key":"438_CR27","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.9.e45","volume":"29","author":"MW Pfaffl","year":"2001","unstructured":"Pfaffl MW (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res 29, e45","journal-title":"Nucleic Acids Res"},{"key":"438_CR28","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1007\/BF01799607","volume":"15","author":"J Poulton","year":"1992","unstructured":"Poulton J (1992) Duplications of mitochondrial DNA: implications for pathogenesis. J Inherit Metab Dis 15:487\u2013498","journal-title":"J Inherit Metab Dis"},{"key":"438_CR29","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1136\/jmg.32.9.732","volume":"32","author":"J Poulton","year":"1995","unstructured":"Poulton J, Harley HG, Dasmahapatra J, Brown GK, Potter CG, Sykes B (1995) Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy. J Med Genet 32:732\u2013735","journal-title":"J Med Genet"},{"key":"438_CR30","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1136\/adc.2008.147983","volume":"94","author":"S Rahman","year":"2009","unstructured":"Rahman S, Poulton J (2009) Diagnosis of mitochondrial DNA depletion syndromes. Arch Dis Child 94:3\u20135","journal-title":"Arch Dis Child"},{"key":"438_CR31","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1212\/01.WNL.0000154518.31302.ED","volume":"64","author":"AM Remes","year":"2005","unstructured":"Remes AM, Majamaa-Voltti K, Karppa M et al (2005) Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. Neurology 64:976\u2013981","journal-title":"Neurology"},{"key":"438_CR32","doi-asserted-by":"crossref","unstructured":"Renaldo F, Amati-Bonneau P, Slama A et al (2012) MFN2, a new gene responsible for mitochondrial DNA depletion. Brain 135:e223, 1\u20134, author reply e224, 1\u20133","DOI":"10.1093\/brain\/aws111"},{"key":"438_CR33","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1159\/000213303","volume":"38","author":"K Sahashi","year":"1992","unstructured":"Sahashi K, Tanaka M, Tashiro M, Ohno K, Ibi T, Takahashi A, Ozawa T (1992) Increased mitochondrial DNA deletions in the skeletal muscle of myotonic dystrophy. Gerontology 38:18\u201329","journal-title":"Gerontology"},{"key":"438_CR34","doi-asserted-by":"publisher","first-page":"R94","DOI":"10.1186\/gb-2011-12-9-r94","volume":"12","author":"AM Sulonen","year":"2011","unstructured":"Sulonen AM, Ellonen P, Almusa H et al (2011) Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol 12:R94","journal-title":"Genome Biol"},{"key":"438_CR35","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.nmd.2010.03.017","volume":"20","author":"A Suomalainen","year":"2010","unstructured":"Suomalainen A, Isohanni P (2010) Mitochondrial DNA depletion syndromes\u2013many genes, common mechanisms. Neuromuscul Disord 20:429\u2013437","journal-title":"Neuromuscul Disord"},{"key":"438_CR36","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1542\/peds.105.3.598","volume":"105","author":"J Uusimaa","year":"2000","unstructured":"Uusimaa J, Remes AM, Rantala H et al (2000) Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders. Pediatrics 105:598\u2013603","journal-title":"Pediatrics"},{"key":"438_CR37","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1038\/ejhg.2013.112","volume":"22","author":"J Uusimaa","year":"2014","unstructured":"Uusimaa J, Evans J, Smith C et al (2014) Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. Eur J Hum Genet 22:184\u2013191","journal-title":"Eur J Hum Genet"},{"key":"438_CR38","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.e125","volume":"40","author":"LJ Wong","year":"2003","unstructured":"Wong LJ, Perng CL, Hsu CH et al (2003) Compensatory amplification of mtDNA in a patient with a novel deletion\/duplication and high mutant load. J Med Genet 40, e125","journal-title":"J Med Genet"},{"key":"438_CR39","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1093\/brain\/awr352","volume":"135","author":"P Yu-Wai-Man","year":"2012","unstructured":"Yu-Wai-Man P, Chinnery PF (2012) Dysfunctional mitochondrial maintenance: what breaks the circle of life? Brain 135:9\u201311","journal-title":"Brain"},{"key":"438_CR40","first-page":"904","volume":"47","author":"M Zeviani","year":"1990","unstructured":"Zeviani M, Bresolin N, Gellera C et al (1990) Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 47:904\u2013914","journal-title":"Am J Hum Genet"}],"container-title":["JIMD Reports","JIMD Reports, Volume 23"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/8904_2015_438","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,29]],"date-time":"2019-05-29T23:36:12Z","timestamp":1559172972000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/8904_2015_438"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"ISBN":["9783662474662","9783662474679"],"references-count":40,"URL":"https:\/\/doi.org\/10.1007\/8904_2015_438","relation":{},"ISSN":["2192-8304","2192-8312"],"issn-type":[{"type":"print","value":"2192-8304"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2015]]}}}