{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:16:18Z","timestamp":1792048578703,"version":"4.4.0"},"reference-count":67,"publisher":"Frontiers Media SA","content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"DOI":"10.3389\/fcvm.2016.00025","type":"journal-article","created":{"date-parts":[[2016,7,24]],"date-time":"2016-07-24T23:01:22Z","timestamp":1469401282000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":162,"title":["Mitochondrial Cardiomyopathies"],"prefix":"10.3389","volume":"3","author":[{"given":"Ayman W.","family":"El-Hattab","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2016,7,25]]},"reference":[{"key":"B1","first-page":"15","article-title":"Review: metabolic cardiomyopathy and conduction system defects in children","volume":"34","author":"Gilbert-Barness","year":"2004","journal-title":"Ann Clin Lab Sci"},{"key":"B2","article-title":"Mitochondrial disorders overview","volume-title":"GeneReviews(\u00ae)","author":"Chinnery","year":"2014"},{"key":"B3","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/978-3-642-15720-2_15","article-title":"Defects of the respiratory chain","volume-title":"Inborn Metabolic Diseases Diagnosis and Treatment","author":"Munnich","year":"2012"},{"key":"B4","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1016\/j.ijcard.2014.11.014","article-title":"Cardiac manifestations of primary mitochondrial disorders","volume":"177","author":"Finsterer","year":"2014","journal-title":"Int J Cardiol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1542\/peds.2004-0718","article-title":"Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease","volume":"114","author":"Scaglia","year":"2004","journal-title":"Pediatrics"},{"key":"B6","first-page":"180","article-title":"Mitochondrial disorders","volume-title":"Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways","author":"El-Hattab","year":"2015"},{"key":"B7","doi-asserted-by":"publisher","first-page":"494","DOI":"10.1016\/j.bbamcr.2012.11.014","article-title":"Biogenesis of mitochondrial carrier proteins: molecular mechanisms of import into mitochondria","volume":"1833","author":"Ferramosca","year":"2013","journal-title":"Biochim Biophys Acta"},{"key":"B8","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1016\/j.gde.2016.03.005","article-title":"Human mitochondrial DNA replication machinery and disease","volume":"38","author":"Young","year":"2016","journal-title":"Curr Opin Genet Dev"},{"key":"B9","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1016\/j.cmet.2014.07.001","article-title":"Making proteins in the powerhouse","volume":"20","author":"H\u00e4llberg","year":"2014","journal-title":"Cell Metab"},{"key":"B10","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/j.bbadis.2006.12.002","article-title":"Mitochondrial protein import and human health and disease","volume":"1772","author":"MacKenzie","year":"2007","journal-title":"Biochim Biophys Acta"},{"key":"B11","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.bbabio.2004.08.006","article-title":"Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders","volume":"1659","author":"Thorburn","year":"2004","journal-title":"Biochim Biophys Acta"},{"key":"B12","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.bbabio.2004.09.005","article-title":"The epidemiology of mitochondrial disorders \u2013 past, present and future","volume":"1659","author":"Schaefer","year":"2004","journal-title":"Biochim Biophys Acta"},{"key":"B13","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1093\/bmb\/ldt017","article-title":"Mitochondrial genetics","volume":"106","author":"Chinnery","year":"2013","journal-title":"Br Med Bull"},{"key":"B14","doi-asserted-by":"publisher","first-page":"2080","DOI":"10.1056\/NEJMoa041878","article-title":"Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency","volume":"351","author":"Coenen","year":"2004","journal-title":"N Engl J Med"},{"key":"B15","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1111\/nure.12011","article-title":"Primary and secondary coenzyme Q10 deficiency: the role of therapeutic supplementation","volume":"71","author":"Potgieter","year":"2013","journal-title":"Nutr Rev"},{"key":"B16","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1007\/s13311-013-0177-6","article-title":"Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options","volume":"10","author":"El-Hattab","year":"2013","journal-title":"Neurotherapeutics"},{"key":"B17","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1242\/dmm.009019","article-title":"Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease","volume":"5","author":"Rouault","year":"2012","journal-title":"Dis Model Mech"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceca.2016.03.003","article-title":"Mitochondrial cytopathies","author":"El-Hattab","year":"2016","journal-title":"Cell Calcium"},{"key":"B19","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1016\/j.cell.2005.02.001","article-title":"Mitochondria, oxidants, and aging","volume":"120","author":"Balaban","year":"2005","journal-title":"Cell"},{"key":"B20","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1016\/j.freeradbiomed.2015.05.039","article-title":"Oxidative stress in inherited mitochondrial diseases","volume":"88","author":"Hayashi","year":"2015","journal-title":"Free Radic Biol Med"},{"key":"B21","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.mito.2011.07.004","article-title":"Mitochondrial calcium homeostasis as potential target for mitochondrial medicine","volume":"12","author":"Giorgi","year":"2012","journal-title":"Mitochondrion"},{"key":"B22","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.ceca.2008.01.002","article-title":"Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency","volume":"44","author":"Willems","year":"2008","journal-title":"Cell Calcium"},{"key":"B23","doi-asserted-by":"publisher","first-page":"1198","DOI":"10.1161\/CIRCRESAHA.112.268946","article-title":"Mitochondrial control of cellular life, stress, and death","volume":"111","author":"Galluzzi","year":"2012","journal-title":"Circ Res"},{"key":"B24","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.ymgme.2012.06.018","article-title":"Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders","volume":"107","author":"El-Hattab","year":"2012","journal-title":"Mol Genet Metab"},{"key":"B25","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1002\/humu.20639","article-title":"Detection of unrecognized low-level mtDNA heteroplasmy may explain the variable phenotypic expressivity of apparently homoplasmic mtDNA mutations","volume":"29","author":"Ballana","year":"2008","journal-title":"Hum Mutat"},{"key":"B26","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1007\/s13311-012-0167-0","article-title":"Mitochondrial disease in childhood: mtDNA encoded","volume":"10","author":"Saneto","year":"2013","journal-title":"Neurotherapeutics"},{"key":"B27","first-page":"385","article-title":"Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management","volume":"40","author":"Meyers","year":"2013","journal-title":"Tex Heart Inst J"},{"key":"B28","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1016\/S0195-668X(02)00387-1","article-title":"Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings","volume":"24","author":"Holmgren","year":"2003","journal-title":"Eur Heart J"},{"key":"B29","doi-asserted-by":"publisher","first-page":"1360","DOI":"10.1016\/j.cjca.2015.08.017","article-title":"Mitochondrial diseases and cardiomyopathies","volume":"31","author":"Brunel-Guitton","year":"2015","journal-title":"Can J Cardiol"},{"key":"B30","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1136\/hrt.80.3.292","article-title":"A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)","volume":"80","author":"Okajima","year":"1998","journal-title":"Heart"},{"key":"B31","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1016\/j.ijcard.2011.11.063","article-title":"Mitochondrial respiratory chain disease in children undergoing cardiac transplantation: a prospective study","volume":"155","author":"Bates","year":"2012","journal-title":"Int J Cardiol"},{"key":"B32","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1007\/s00246-008-9359-0","article-title":"Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation\/noncompaction","volume":"30","author":"Finsterer","year":"2009","journal-title":"Pediatr Cardiol"},{"key":"B33","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1002\/clc.20224","article-title":"Histiocytoid cardiomyopathy: a mitochondrial disorder","volume":"31","author":"Finsterer","year":"2008","journal-title":"Clin Cardiol"},{"key":"B34","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1007\/8904_2014_375","article-title":"Leigh syndrome caused by the MT-ND5 m.13513G>A mutation: a case presenting with WPW-like conduction defect, cardiomyopathy, hypertension and hyponatraemia","volume":"19","author":"Brecht","year":"2015","journal-title":"JIMD Rep"},{"key":"B35","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1136\/jmedgenet-2012-101159","article-title":"Complex I deficiency: clinical features, biochemistry and molecular genetics","volume":"49","author":"Fassone","year":"2012","journal-title":"J Med Genet"},{"key":"B36","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1007\/s00439-015-1568-z","article-title":"A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency","volume":"134","author":"Alston","year":"2015","journal-title":"Hum Genet"},{"key":"B37","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1002\/ajmg.a.35714","article-title":"Complex II deficiency \u2013 a case report and review of the literature","volume":"161A","author":"Jain-Ghai","year":"2013","journal-title":"Am J Med Genet A"},{"key":"B38","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1203\/00006450-200009000-00008","article-title":"A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy","volume":"48","author":"Andreu","year":"2000","journal-title":"Pediatr Res"},{"key":"B39","doi-asserted-by":"publisher","first-page":"954","DOI":"10.1002\/humu.22596","article-title":"A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance","volume":"35","author":"Carossa","year":"2014","journal-title":"Hum Mutat"},{"key":"B40","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1002\/mgg3.5","article-title":"MT-CYB mutations in hypertrophic cardiomyopathy","volume":"1","author":"Hagen","year":"2013","journal-title":"Mol Genet Genomic Med"},{"key":"B41","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1038\/ejhg.2014.85","article-title":"Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy","volume":"23","author":"Abdulhag","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"B42","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1054\/jcaf.2000.19232","article-title":"The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations","volume":"6","author":"Marin-Garcia","year":"2000","journal-title":"J Card Fail"},{"key":"B43","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1136\/jmedgenet-2013-101604","article-title":"Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders","volume":"50","author":"Bannwarth","year":"2013","journal-title":"J Med Genet"},{"key":"B44","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1136\/jmedgenet-2013-101818","article-title":"The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy","volume":"51","author":"Liu","year":"2014","journal-title":"J Med Genet"},{"key":"B45","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1086\/302188","article-title":"Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation","volume":"64","author":"Santorelli","year":"1999","journal-title":"Am J Hum Genet"},{"key":"B46","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1007\/s10048-015-0444-2","article-title":"MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy","volume":"16","author":"Distelmaier","year":"2015","journal-title":"Neurogenetics"},{"key":"B47","doi-asserted-by":"publisher","first-page":"1225","DOI":"10.1002\/humu.21562","article-title":"Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy","volume":"32","author":"Galmiche","year":"2011","journal-title":"Hum Mutat"},{"key":"B48","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1212\/WNL.0000000000000716","article-title":"Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy","volume":"83","author":"Ahola","year":"2014","journal-title":"Neurology"},{"key":"B49","article-title":"Mitochondrial neurogastrointestinal encephalopathy disease","volume-title":"GeneReviews(\u00ae)","author":"Hirano","year":"2016"},{"key":"B50","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1002\/1531-8249(200006)47:6792::AID-ANA123.3.CO;2-P","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations","volume":"47","author":"Nishino","year":"2000","journal-title":"Ann Neurol"},{"key":"B51","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1007\/s10545-014-9749-9","article-title":"Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency","volume":"38","author":"Desbats","year":"2015","journal-title":"J Inherit Metab Dis"},{"key":"B52","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1159\/000362826","article-title":"Genetics of coenzyme q10 deficiency","volume":"5","author":"Doimo","year":"2014","journal-title":"Mol Syndromol"},{"key":"B53","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1186\/1750-1172-8-23","article-title":"Barth syndrome","volume":"8","author":"Clarke","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"B54","doi-asserted-by":"publisher","first-page":"198","DOI":"10.1002\/ajmg.c.31372","article-title":"Barth syndrome","volume":"163C","author":"Jefferies","year":"2013","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"B55","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1007\/s10545-012-9580-0","article-title":"Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature","volume":"36","author":"Wortmann","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"B56","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1038\/pr.2012.92","article-title":"New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies","volume":"72","author":"Ojala","year":"2012","journal-title":"Pediatr Res"},{"key":"B57","doi-asserted-by":"publisher","first-page":"1288","DOI":"10.1038\/ng.246","article-title":"TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy","volume":"40","author":"C\u00edzkov\u00e1","year":"2008","journal-title":"Nat Genet"},{"key":"B58","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1186\/s13023-014-0119-3","article-title":"Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients","volume":"9","author":"Haghighi","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"B59","article-title":"Friedreich ataxia","volume-title":"GeneReviews(\u00ae)","author":"Bidichandani","year":"2014"},{"issue":"Suppl 1","key":"B60","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1111\/jnc.12217","article-title":"Cardiomyopathy of Friedreich ataxia","volume":"126","author":"Weidemann","year":"2013","journal-title":"J Neurochem"},{"key":"B61","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.ymgme.2007.11.018","article-title":"The in-depth evaluation of suspected mitochondrial disease","volume":"94","author":"Haas","year":"2008","journal-title":"Mol Genet Metab"},{"key":"B62","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1016\/j.ajhg.2013.07.017","article-title":"Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance","volume":"93","author":"Bonnen","year":"2013","journal-title":"Am J Hum Genet"},{"key":"B63","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1016\/S1525-1578(10)60595-8","article-title":"Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease","volume":"7","author":"Bai","year":"2005","journal-title":"J Mol Diagn"},{"key":"B64","doi-asserted-by":"publisher","first-page":"1326","DOI":"10.1016\/j.bbabio.2016.02.022","article-title":"New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies","volume":"1857","author":"Legati","year":"2016","journal-title":"Biochim Biophys Acta"},{"key":"B65","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1038\/nrg2626","article-title":"Sequencing technologies \u2013 the next generation","volume":"11","author":"Metzker","year":"2010","journal-title":"Nat Rev Genet"},{"key":"B66","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1212\/WNL.57.3.515","article-title":"Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency","volume":"57","author":"Di Giovanni","year":"2001","journal-title":"Neurology"},{"key":"B67","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1016\/j.bbabio.2015.03.001","article-title":"Emerging concepts in the therapy of mitochondrial disease","volume":"1847","author":"Viscomi","year":"2015","journal-title":"Biochim Biophys Acta"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"deposited":{"date-parts":[[2017,6,24]],"date-time":"2017-06-24T15:05:07Z","timestamp":1498316707000},"score":1,"resource":{"primary":{"URL":"http:\/\/journal.frontiersin.org\/Article\/10.3389\/fcvm.2016.00025\/abstract"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7,25]]},"references-count":67,"URL":"https:\/\/doi.org\/10.3389\/fcvm.2016.00025","relation":{},"ISSN":["2297-055X"],"issn-type":[{"value":"2297-055X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7,25]]}}}