{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T04:25:24Z","timestamp":1773289524940,"version":"3.50.1"},"reference-count":48,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2014,5,1]],"date-time":"2014-05-01T00:00:00Z","timestamp":1398902400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Council of Scientific and Industrial Research (CSIR), Government of India for Senior Research Fellowship"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2014,5]]},"DOI":"10.1016\/j.mito.2013.10.006","type":"journal-article","created":{"date-parts":[[2013,11,9]],"date-time":"2013-11-09T09:00:52Z","timestamp":1383987652000},"page":"65-72","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"special_numbering":"C","title":["Mitochondrial DNA variations associated with hypertrophic cardiomyopathy"],"prefix":"10.1016","volume":"16","author":[{"given":"Periyasamy","family":"Govindaraj","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nahid Akhtar","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bindu","family":"Rani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepa Selvi","family":"Rani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priyadharshini","family":"Selvaraj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vuskamalla","family":"Jyothi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajay","family":"Bahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Calambur","family":"Narasimhan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dharma","family":"Rakshak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumpati","family":"Premkumar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madhu","family":"Khullar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumarasamy","family":"Thangaraj","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.mito.2013.10.006_bb0005","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1038\/290457a0","article-title":"Sequence and organization of the human mitochondrial genome","volume":"290","author":"Anderson","year":"1981","journal-title":"Nature"},{"key":"10.1016\/j.mito.2013.10.006_bb0010","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."},{"key":"10.1016\/j.mito.2013.10.006_bb0015","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1093\/eurheartj\/ehs275","article-title":"Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management","volume":"33","author":"Bates","year":"2012","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.mito.2013.10.006_bb0020","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1002\/ana.20624","article-title":"Mitochondria take center stage in aging and neurodegeneration","volume":"58","author":"Beal","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.mito.2013.10.006_bb0025","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1006\/bbrc.1995.2172","article-title":"A novel mtDNA point mutation in maternally inherited cardiomyopathy","volume":"213","author":"Casali","year":"1995","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mito.2013.10.006_bb0030","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/j.ijcard.2005.09.008","article-title":"Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy","volume":"112","author":"Castro","year":"2006","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.mito.2013.10.006_bb0035","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1056\/NEJM199412083312307","article-title":"Idiopathic dilated cardiomyopathy","volume":"331","author":"Dec","year":"1994","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mito.2013.10.006_bb0040","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1038\/ng.309","article-title":"A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia","volume":"41","author":"Dhandapany","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mito.2013.10.006_bb0045","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1093\/eurheartj\/ehm342","article-title":"Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases","volume":"29","author":"Elliott","year":"2008","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.mito.2013.10.006_bb0050","doi-asserted-by":"crossref","first-page":"e44128","DOI":"10.1371\/journal.pone.0044128","article-title":"Mitochondrial haplogroups H and J: risk and protective factors for ischemic cardiomyopathy","volume":"7","author":"Fernandez-Caggiano","year":"2012","journal-title":"PLoS ONE"},{"key":"10.1016\/j.mito.2013.10.006_bb0055","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.mito.2013.03.005","article-title":"Mitochondrial DNA haplogroup H as a risk factor for idiopathic dilated cardiomyopathy in Spanish population","volume":"13","author":"Fernandez-Caggiano","year":"2013","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.10.006_bb0060","unstructured":"Govindaraj, P., Rani, B., Khan, N.A., Bahl, A., Saikiae, U.N., Premkumar, K., Khullar, M., Thangaraj, K., Heteroplasmic m.12330A>G variant in mt-tRNALeu (CUN) with ultrastructural alterations of mitochondria in hypertrophic cardiomyopathy with restrictive phenotype (unpublished)."},{"key":"10.1016\/j.mito.2013.10.006_bb0065","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1002\/path.3028","article-title":"Mitochondrial DNA and disease","volume":"226","author":"Greaves","year":"2012","journal-title":"J. Pathol."},{"key":"10.1016\/j.mito.2013.10.006_bb0070","doi-asserted-by":"crossref","first-page":"e71904","DOI":"10.1371\/journal.pone.0071904","article-title":"Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population","volume":"8","author":"Hagen","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.mito.2013.10.006_bb0075","first-page":"935","article-title":"Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation","volume":"48","author":"Howell","year":"1991","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.10.006_bb0080","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1086\/519394","article-title":"Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background","volume":"81","author":"Hudson","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.10.006_bb0085","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1007\/BF01247339","article-title":"The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy","volume":"92","author":"Huoponen","year":"1993","journal-title":"Hum. Genet."},{"key":"10.1016\/j.mito.2013.10.006_bb0095","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1016\/j.ajhg.2008.11.002","article-title":"Mitochondrial DNA haplogroups M7b1\u20322 and M8a affect clinical expression of Leber hereditary optic neuropathy in Chinese families with the m.11778G>A mutation","volume":"83","author":"Ji","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.10.006_bb0090","doi-asserted-by":"crossref","first-page":"7391","DOI":"10.1073\/pnas.1202484109","article-title":"Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans","volume":"109","author":"Ji","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mito.2013.10.006_bb0100","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1007\/s12265-008-9025-1","article-title":"Genetic evaluation of familial cardiomyopathy","volume":"1","author":"Judge","year":"2008","journal-title":"J. Cardiovasc. Transl. Res."},{"key":"10.1016\/j.mito.2013.10.006_bb0105","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/S0168-9525(97)01266-3","article-title":"Mammalian mitochondrial genetics: heredity, heteroplasmy and disease","volume":"13","author":"Lightowlers","year":"1997","journal-title":"Trends genet.: TIG"},{"key":"10.1016\/j.mito.2013.10.006_bb0110","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.mito.2013.10.006_bb0115","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.mito.2008.10.002","article-title":"Human mitochondrial variants influence on oxygen consumption","volume":"9","author":"Marcuello","year":"2009","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.10.006_bb0120","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1111\/j.1365-2362.2010.02268.x","article-title":"Hypertrophic cardiomyopathy: from genetics to treatment","volume":"40","author":"Marian","year":"2010","journal-title":"Eur. J. Clin. Invest."},{"key":"10.1016\/j.mito.2013.10.006_bb0125","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1054\/jcaf.2002.127774","article-title":"Understanding the impact of mitochondrial defects in cardiovascular disease: a review","volume":"8","author":"Marin-Garcia","year":"2002","journal-title":"J. Card. Fail."},{"key":"10.1016\/j.mito.2013.10.006_bb0130","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1001\/jama.287.10.1308","article-title":"Hypertrophic cardiomyopathy: a systematic review","volume":"287","author":"Maron","year":"2002","journal-title":"JAMA: J. Am. Med. Assoc."},{"key":"10.1016\/j.mito.2013.10.006_bb0135","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1016\/0002-8703(92)90410-W","article-title":"Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy","volume":"124","author":"Obayashi","year":"1992","journal-title":"Am. Heart J."},{"key":"10.1016\/j.mito.2013.10.006_bb0140","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.cell.2008.06.016","article-title":"A mitochondrial protein compendium elucidates complex I disease biology","volume":"134","author":"Pagliarini","year":"2008","journal-title":"Cell"},{"key":"10.1016\/j.mito.2013.10.006_bb0145","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ijcard.2005.07.065","article-title":"Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy","volume":"109","author":"Prasad","year":"2006","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.mito.2013.10.006_bb0150","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.mito.2009.12.146","article-title":"Mitochondrial DNA haplogroup \u2018R\u2019 is associated with Noonan syndrome of south India","volume":"10","author":"Rani","year":"2010","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.10.006_bb0155","first-page":"181","article-title":"Molecular scanning of candidate mtDNA gene fragment in diabetic pedigrees","volume":"20","author":"Ren","year":"2003","journal-title":"Chin. J. Med. Genet."},{"key":"10.1016\/j.mito.2013.10.006_bb0160","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1093\/nar\/26.4.967","article-title":"Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome","volume":"26","author":"Rieder","year":"1998","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.mito.2013.10.006_bb0165","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1001\/archneurol.2007.67","article-title":"The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases","volume":"65","author":"Shanske","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.mito.2013.10.006_bb0170","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.1016\/j.neurobiolaging.2004.02.020","article-title":"High frequency of mitochondrial complex I mutations in Parkinson's disease and aging","volume":"25","author":"Smigrodzki","year":"2004","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.mito.2013.10.006_bb0175","first-page":"389","article-title":"Mitochondrial DNA mutations in human disease. Nature reviews","volume":"6","author":"Taylor","year":"2005","journal-title":"Genetics"},{"key":"10.1016\/j.mito.2013.10.006_bb0180","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/j.1939-4640.2002.tb02338.x","article-title":"CAG repeat expansion in the androgen receptor gene is not associated with male infertility in Indian populations","volume":"23","author":"Thangaraj","year":"2002","journal-title":"Int. J. Androl."},{"key":"10.1016\/j.mito.2013.10.006_bb0185","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/j.1939-4640.2003.tb02687.x","article-title":"Sperm mitochondrial mutations as a cause of low sperm motility","volume":"24","author":"Thangaraj","year":"2003","journal-title":"Int. J. Androl."},{"key":"10.1016\/j.mito.2013.10.006_bb0190","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/S0960-9822(02)01336-2","article-title":"Genetic affinities of the Andaman Islanders, a vanishing human population","volume":"13","author":"Thangaraj","year":"2003","journal-title":"Curr. biol.: CB"},{"key":"10.1016\/j.mito.2013.10.006_bb0195","first-page":"1107","article-title":"Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484","volume":"60","author":"Torroni","year":"1997","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2013.10.006_bb0200","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/sj.embor.7400440","article-title":"Degenerate mitochondria","volume":"6","author":"van der Giezen","year":"2005","journal-title":"EMBO Rep."},{"key":"10.1016\/j.mito.2013.10.006_bb0205","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.mrfmmm.2008.06.004","article-title":"Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A","volume":"643","author":"Wang","year":"2008","journal-title":"Mutat. Res."},{"key":"10.1016\/j.mito.2013.10.006_bb0210","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.1056\/NEJMra0902923","article-title":"Inherited cardiomyopathies","volume":"364","author":"Watkins","year":"2011","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.mito.2013.10.006_bb0215","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1111\/j.1440-1681.2009.05183.x","article-title":"Novel mitochondrial DNA mutations associated with Chinese familial hypertrophic cardiomyopathy","volume":"36","author":"Wei","year":"2009","journal-title":"Clin. Exp. Pharmacol. Physiol."},{"key":"10.1016\/j.mito.2013.10.006_bb0225","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/wrna.27","article-title":"Mitochondrial tRNA mutations and disease","volume":"1","author":"Yarham","year":"2010","journal-title":"Wiley Interdiscip Rev RNA"},{"key":"10.1016\/j.mito.2013.10.006_bb0220","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1002\/humu.21575","article-title":"A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations","volume":"32","author":"Yarham","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.mito.2013.10.006_bb0230","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.mito.2012.06.009","article-title":"A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations","volume":"12","author":"Yarham","year":"2012","journal-title":"Mitochondrion"},{"key":"10.1016\/j.mito.2013.10.006_bb0235","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0140-6736(91)90136-D","article-title":"Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR)","volume":"338","author":"Zeviani","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.mito.2013.10.006_bb0240","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.cca.2009.09.023","article-title":"Genetic variants in mitochondrial tRNA genes are associated with essential hypertension in a Chinese Han population","volume":"410","author":"Zhu","year":"2009","journal-title":"Clin. Chim. Acta; Int. J. Clin. Chem."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724913002717?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724913002717?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,5,19]],"date-time":"2024-05-19T09:36:59Z","timestamp":1716111419000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724913002717"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5]]},"references-count":48,"alternative-id":["S1567724913002717"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2013.10.006","relation":{},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2014,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial DNA variations associated with hypertrophic cardiomyopathy","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2013.10.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 \u00a9 Elsevier B.V. and Mitochondria Research Society. All rights reserved. Published by Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}