{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:28:42Z","timestamp":1785796122548,"version":"3.56.0"},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2021,1,19]],"date-time":"2021-01-19T00:00:00Z","timestamp":1611014400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,19]],"date-time":"2021-01-19T00:00:00Z","timestamp":1611014400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Mol Neurosci"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1007\/s12031-020-01765-8","type":"journal-article","created":{"date-parts":[[2021,1,19]],"date-time":"2021-01-19T18:03:01Z","timestamp":1611079381000},"page":"2219-2228","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase \u03b3 Mutations in a Cohort from India"],"prefix":"10.1007","volume":"71","author":[{"given":"Sekar","family":"Deepha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Periyasamy","family":"Govindaraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bindu Parayil","family":"Sankaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shwetha","family":"Chiplunkar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chetan","family":"Kashinkunti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vandana","family":"Nunia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madhu","family":"Nagappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjib","family":"Sinha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tripti","family":"Khanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumarasamy","family":"Thangaraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arun B.","family":"Taly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3903-3363","authenticated-orcid":false,"given":"Narayanappa","family":"Gayathri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,19]]},"reference":[{"issue":"16","key":"1765_CR1","doi-asserted-by":"publisher","first-page":"2496","DOI":"10.1093\/hmg\/ddn150","volume":"17","author":"N Ashley","year":"2008","unstructured":"Ashley N, O\u2019Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown et al (2008) Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. Hum Mol Genet 17(16):2496\u20132506","journal-title":"Hum Mol Genet"},{"issue":"9","key":"1765_CR2","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1212\/01.WNL.0000033795.17156.00","volume":"59","author":"FP Bernier","year":"2002","unstructured":"Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR et al (2002) Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59(9):1406\u20131411","journal-title":"Neurology"},{"key":"1765_CR3","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/j.mito.2015.08.002","volume":"25","author":"PS Bindu","year":"2015","unstructured":"Bindu PS, Arvinda H, Taly AB, Govindaraju C, Sonam K, Chiplunkar S, Kumar R et al (2015) Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India. Mitochondrion 25:6\u201316","journal-title":"Mitochondrion"},{"issue":"6","key":"1765_CR4","doi-asserted-by":"publisher","first-page":"7168","DOI":"10.1096\/fj.201801591R","volume":"33","author":"C Blazquez-Bermejo","year":"2019","unstructured":"Blazquez-Bermejo C, Carreno-Gago L, Molina-Granada D, Aguirre J, Ramon J, Torres-Torronteras J, Cabrera-Perez R et al (2019) Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts. FASEB J 33(6):7168\u20137179","journal-title":"FASEB J"},{"issue":"11","key":"1765_CR5","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1136\/jmg.2009.067686","volume":"46","author":"MJ Blok","year":"2009","unstructured":"Blok MJ, van den Bosch BJ, Jongen E, Hendrickx A, de Die-Smulders CE, Hoogendijk JE, Brusse E et al (2009) The unfolding clinical spectrum of POLG mutations. J Med Genet 46(11):776\u2013785","journal-title":"J Med Genet"},{"issue":"23","key":"1765_CR6","doi-asserted-by":"publisher","first-page":"3473","DOI":"10.1093\/hmg\/ddl424","volume":"15","author":"SS Chan","year":"2006","unstructured":"Chan SS, Longley MJ, Copeland WC et al (2006) Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. Hum Mol Genet 15(23):3473\u20133483","journal-title":"Hum Mol Genet"},{"key":"1765_CR7","unstructured":"Dubowitz V S (2013) Muscle Biopsy: A Practical Approach. Fourth edition (Saunders Ltd)"},{"key":"1765_CR8","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1093\/brain\/awh410","volume":"128","author":"G Ferrari","year":"2005","unstructured":"Ferrari G, Lamantea E, Donati A, Filsoto M, Briem E, Carrara F, Parini R et al (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase \u2013gamma A. Brain 128:723\u2013731","journal-title":"Brain"},{"issue":"3","key":"1765_CR9","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1016\/j.mito.2011.01.009","volume":"11","author":"P Govindaraj","year":"2011","unstructured":"Govindaraj P, Khan NA, Gopalakrishna P, Chandra RV, Vanniarajan A, Reddy AA, Singh S et al (2011) Mitochondrial dysfunction and genetic heterogeneity in chronic periodontitis. Mitochondrion 11(3):504\u2013512","journal-title":"Mitochondrion"},{"issue":"3","key":"1765_CR10","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1086\/444548","volume":"77","author":"AH Hakonen","year":"2005","unstructured":"Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV et al (2005) Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77(3):430\u2013441","journal-title":"Am J Hum Genet"},{"issue":"7","key":"1765_CR11","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1038\/sj.ejhg.5201831","volume":"15","author":"AH Hakonen","year":"2007","unstructured":"Hakonen AH, Davidzon G, Salemi R, Bindoff LA, Goethem GV, Dimauro S, Thornburn DR et al (2007) Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. Eur J Hum Genet 15(7):779\u2013783","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"1765_CR12","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1136\/jnnp-2013-306748","volume":"86","author":"F Hanisch","year":"2015","unstructured":"Hanisch F, Kornhuber M, Alston CL, Taylor RW, Deschauer M, Zierz S et al (2015) SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions. J Neurol Neurosurg Psychiatry 86(6):630\u2013634","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Pt7","key":"1765_CR13","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1093\/brain\/awl088","volume":"129","author":"R Horvath","year":"2006","unstructured":"Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, Prokisch H et al (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129(Pt7):1674\u20131684","journal-title":"Brain"},{"issue":"10","key":"1765_CR14","doi-asserted-by":"publisher","first-page":"2339","DOI":"10.1038\/nprot.2007.358","volume":"2","author":"M Hu","year":"2007","unstructured":"Hu M, Jex AR, Campbell BE, Gasser RB et al (2007) Long PCR amplification of the entire mitochondrial genome from individual helminths for direct sequencing. Nat Protoc 2(10):2339\u20132344","journal-title":"Nat Protoc"},{"issue":"9","key":"1765_CR15","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1007\/s00439-015-1578-x","volume":"134","author":"M Kaliszewska","year":"2015","unstructured":"Kaliszewska M, Kruszewski J, Kierdaszuk B, Kostera-Pruszczyk A, Nojszewska M, \u0141usakowska A, Vizueta J et al (2015) Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease. Hum Genet 134(9):951\u2013966","journal-title":"Hum Genet"},{"issue":"3","key":"1765_CR16","first-page":"318","volume":"2","author":"M Nagappa","year":"2015","unstructured":"Nagappa M, Bindu PS, Taly AB, Sonam K, Shwetha C, Kumar R, Gayathri N et al (2015) Palatal tremor in POLG-associated ataxia Mov Disord Clin Pract 2(3):318\u2013320","journal-title":"Palatal tremor in POLG-associated ataxia MovDisordClinPract"},{"key":"1765_CR17","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1016\/j.bbacli.2017.04.001","volume":"7","author":"A Nurminen","year":"2017","unstructured":"Nurminen A, Farnum GA, Kaguni LS et al (2017) Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. BBA Clin 7:147\u2013156","journal-title":"BBA Clin"},{"key":"1765_CR18","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.mito.2019.08.003","volume":"48","author":"A Paramasivam","year":"2019","unstructured":"Paramasivam A, Venkatapathi C, Sandeep G, Ak M, Uppin MS, Mohapatra S, Pitceathly RDS et al (2019) Homozygous R627W mutations in POLG cause mitochondrial DNA depletion leading to encephalopathy, seizures and stroke-like episodes. Mitochondrion 48:78\u201383","journal-title":"Mitochondrion"},{"key":"1765_CR19","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/j.mito.2018.11.004","volume":"47","author":"D Piekutowska-Abramczuk","year":"2019","unstructured":"Piekutowska-Abramczuk D, Kaliszewska M, Su\u0142ek A et al (2019) The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort. Mitochondrion 47:179\u2013187","journal-title":"Mitochondrion"},{"issue":"1","key":"1765_CR20","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/s41582-018-0101-0","volume":"15","author":"S Rahman","year":"2019","unstructured":"Rahman S, Copeland WC (2019) POLG-related disorders and their neurological manifestations. Nat Rev Neurol 15(1):40\u201352","journal-title":"Nat Rev Neurol"},{"issue":"4","key":"1765_CR21","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1038\/ejhg.2013.171","volume":"22","author":"C Rouzier","year":"2014","unstructured":"Rouzier C, Chaussenot A, Serre V et al (2014) Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. Eur J Hum Genet 22(4):542\u2013550","journal-title":"Eur J Hum Genet"},{"key":"1765_CR22","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.mito.2016.11.002","volume":"32","author":"K Sonam","year":"2017","unstructured":"Sonam K, Bindu PS, Srinivas Bharath MM, Govindaraj P, Gayathri N, Arvinda HR, Chiplunkar S et al (2017) Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India. Mitochondrion 32:42\u201349","journal-title":"Mitochondrion"},{"issue":"2","key":"1765_CR23","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1007\/s00018-010-0530-4","volume":"68","author":"JD Stumpf","year":"2011","unstructured":"Stumpf JD, Copeland WC (2011) Mitochondrial NDA replication and disease:insights from DNA polymerase \u03b3 mutations. Cell Mol Life Sci 68(2):219\u2013233","journal-title":"Cell Mol Life Sci"},{"issue":"10","key":"1765_CR24","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1136\/jmedgenet-2011-100222","volume":"48","author":"S Tang","year":"2011","unstructured":"Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ et al (2011) Mitochondrial DNA polymerase gamma mutations: An ever expanding molecular and clinical spectrum. J Med Genet 48(10):669\u2013681","journal-title":"J Med Genet"},{"issue":"6","key":"1765_CR25","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/j.1939-4640.2002.tb02338.x","volume":"23","author":"K Thangaraj","year":"2002","unstructured":"Thangaraj K, Joshi MB, Reddy AG, Gupta NJ, Chakravarty B, Singh L et al (2002) CAG repeat expansion in the androgen receptor gene is not associated with male infertility in Indian populations. J Androl 23(6):815\u2013818","journal-title":"J Androl"},{"issue":"Pt 7","key":"1765_CR26","doi-asserted-by":"publisher","first-page":"1685","DOI":"10.1093\/brain\/awl097","volume":"129","author":"C Tzoulis","year":"2006","unstructured":"Tzoulis C, Engelsen BA, Telstad W, Asaly J, Zevaini M, Winterthun S, Ferrari G et al (2006) The spectrum of clinical disease caused by the A467T and W748S POLG mutations: A study of 26 cases. Brain 129(Pt 7):1685\u20131692","journal-title":"Brain"},{"issue":"3","key":"1765_CR27","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1038\/90034","volume":"28","author":"G Van Goethem","year":"2001","unstructured":"Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C et al (2001) Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 28(3):211\u2013212","journal-title":"Nat Genet"},{"issue":"9","key":"1765_CR28","doi-asserted-by":"publisher","first-page":"E150","DOI":"10.1002\/humu.20824","volume":"29","author":"LJ Wong","year":"2008","unstructured":"Wong LJ, Naviaux RK, Brunetti-Pierri N et al (2008) Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 29(9):E150\u2013E172","journal-title":"Hum Mutat"}],"container-title":["Journal of Molecular Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01765-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12031-020-01765-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12031-020-01765-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,22]],"date-time":"2024-08-22T17:38:14Z","timestamp":1724348294000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12031-020-01765-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,19]]},"references-count":28,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["1765"],"URL":"https:\/\/doi.org\/10.1007\/s12031-020-01765-8","relation":{},"ISSN":["0895-8696","1559-1166"],"issn-type":[{"value":"0895-8696","type":"print"},{"value":"1559-1166","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,19]]},"assertion":[{"value":"10 June 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 November 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 January 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"The authors declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"The written informed consent for publication was taken from all the participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for Publication"}},{"value":"The study was approved by the Institute Ethics Committee\u00a0(Approval No: NIMHANS: SI No.1 Clinical Neurosciences dated 03.09.2014), and written informed consent was taken from all the\u00a0participants.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}}]}}