References
- LeighDSubacute necrotizing encephalomyelopathy in an infantJ Neurol Neurosurg Psychiatry195114321622114874135
- Genetics Home Reference. Leigh syndrome Available from: http://ghr.nlm.nih.gov/condition/leigh-syndrome2011Accessed: Jun 2014
- CarrozzoRDionisi-ViciCSteuerwaldUSUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessBrain2007130Pt 386287417301081
- DarinNOldforsAMoslemiARHolmeETuliniusMThe incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalitiesAnn Neurol200149337738311261513
- SofouKDe CooIFMIsohanniPA multicenter study on Leigh syndrome: disease course and predictors of survivalOrphanet J Rare Dis2014915224731534
- SanetoRPSinghKKIllness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T.CMitochondrion201010556757220546952
- KoeneSRodenburgRJvan der KnaapMSNatural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 casesJ Inherit Metab Dis201235573774722644603
- PatelKPO’BrienTWSubramonySHShusterJStacpoolePWThe spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patientsMol Genet Metab20121051344322079328
- SantorelliFMShanskeSMacayaADeVivoDCDiMauroSThe mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh’s syndromeAnn Neurol19933468278348250532
- CholMLebonSBénitPThe mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiencyJ Med Genet200340318819112624137
- TsujiMKurokiSMaedaHLeigh syndrome associated with West syndromeBrain Dev200325424525012767455
- RahmanSBlokRBDahlHHMLeigh syndrome: clinical features and biochemical and DNA abnormalitiesAnn Neurol19963933433518602753
- CavanaghJBHardingBNPathogenic factors underlying the lesions in Leigh’s disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequencesBrain1994117Pt 6135713767820572
- HaackTBGorzaMDanhauserKPhenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screeningMol Genet Metab2014111334235224461907
- CalvoSEComptonAGHershmanSGMolecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingSci Transl Med20124118118ra10
- LieberDSCalvoSEShanahanKTargeted exome sequencing of suspected mitochondrial disordersNeurology201380191762177023596069
- DiMauroSSchonEACarelliVHiranoMThe clinical maze of mitochondrial neurologyNat Rev Neurol20139842944423835535
- BannwarthSProcaccioVLebreASPrevalence of rare mitochondrial DNA mutations in mitochondrial disordersJ Med Genet2013501070471423847141
- ShrikhandeDYKalakotiPSyedMMAAhyaKSinghGA rare mitochondrial disorder: Leigh syndrome – a case reportItal J Pediatr2010361626620843336
- GerardsMKampsRvan OevelenJExome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndromeBrain2013136Pt 388289023423671
- LópezLCSchuelkeMQuinziiCMLeigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutationsAm J Hum Genet20067961125112917186472
- ElpelegOMillerCHershkovitzEDeficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletionAm J Hum Genet20057661081108615877282
- Van MaldergemLTrijbelsFDiMauroSCoenzyme Q-responsive Leigh’s encephalopathy in two sistersAnn Neurol200252675075412447928
- WongLJCMitochondrial syndromes with leukoencephalopathiesSemin Neurol2012321556122422207
- KucharczykRRakMdi RagoJPBiochemical consequences in yeast of the human mitochondrial DNA 8993T.C mutation in the ATPase6 gene found in NARP/MILS patientsBiochim Biophys Acta20091793581782419269308
- SanetoRPSedenskyMMMitochondrial disease in childhood: mtDNA encodedNeurotherapeutics201310219921123224691
- MoratóLBertiniEVerrigniDMitochondrial dysfunction in central nervous system white matter disordersGlia2014 n/a
- BarneriasCSaudubrayJMTouatiGPyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesisDev Med Child Neurol2010522e1e920002125
- Jain-GhaiSCameronJMAl MaawaliAComplex II deficiency – a case report and review of the literatureAm J Med Genet A2013161A228529423322652
- RenkemaGHWortmannSBSmeetsRJSDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsEur J Hum Genet Epub4302014
- AntonickaHLearySCGuercinG-HMutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiencyHum Mol Genet200312202693270212928484
- BöhmMPronickaEKarczmarewiczERetrospective, multi-centric study of 180 children with cytochrome C oxidase deficiencyPediatr Res2006591212616326995
- WedatilakeYBrownRMMcFarlandRSURF1 deficiency: a multi-centre natural history studyOrphanet J Rare Dis2013819611023829769
- RossiABiancheriRBrunoCLeigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findingsAJNR Am J Neuroradiol20032461188119112812953
- FarinaLChiappariniLUzielGBugianiMZevianiMSavoiardoMMR findings in Leigh syndrome with COX deficiency and SURF-1 mutationsAJNR Am J Neuroradiol20022371095110012169463
- FassoneERahmanSComplex I deficiency: clinical features, biochemistry and molecular geneticsJ Med Genet201249957859022972949
- DebrayFGMorinCJanvierALRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiencyJ Med Genet201148318318921266382
- TatuchYRobinsonBHThe mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondriaBiochem Biophys Res Commun199319211241288476414
- BaraccaASgarbiGMattiazziMBiochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993Biochim Biophys Acta20071767791391917568559
- AndersonSBankierATBarrellBGSequence and organization of the human mitochondrial genomeNature198129058064574657219534
- KucharczykRZickMBietenhaderMMitochondrial ATP synthase disorders: molecular mechanisms and the quest for curative therapeutic approachesBiochim Biophys Acta20091793118619918620007
- UzielGGhezziDZevianiMInfantile mitochondrial encephalopathySemin Fetal Neonatal Med201116420521521620787
- SgarbiGBaraccaALenazGValentinoLMCarelliVSolainiGInefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNABiochem J2006395349350016402916
- JenuthJPPetersonACFuKShoubridgeEARandom genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNANat Genet19961421461518841183
- CaoLShitaraHSugimotoMHayashiJAbeKYonekawaHNew evidence confirms that the mitochondrial bottleneck is generated without reduction of mitochondrial DNA content in early primordial germ cells of micePLoS Genet2009512e100075619997484
- CarrollJFearnleyIMSkehelJMShannonRJHirstJWalkerJEBovine complex I is a complex of 45 different subunitsJ Biol Chem200628143327243272716950771
- HoefsSJGRodenburgRJSmeitinkJAvan den HeuvelLPMolecular base of biochemical complex I deficiencyMitochondrion201212552053222820119
- LoeffenJLSmeitinkJATrijbelsJMIsolated complex I deficiency in children: clinical, biochemical and genetic aspectsHum Mutat200015212313410649489
- SkladalDHallidayJThorburnDRMinimum birth prevalence of mitochondrial respiratory chain disorders in childrenBrain2003126Pt 81905191212805096
- García-CazorlaADe LonlayPNassogneMCRustinPTouatiGSaudubrayJMLong-term follow-up of neonatal mitochondrial cytopathies: a study of 57 patientsPediatrics200511651170117716264005
- GibsonKHallidayJLKirbyDMYaplito-LeeJThorburnDRBonehAMitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnosesPediatrics200812251003100818977979
- LengYLiuYFangXThe mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosiaMitochondrial DNA Epub482014
- NegishiYHattoriATakeshitaEHomoplasmy of a mitochondrial 3697G.A mutation causes Leigh syndromeJ Hum Genet201459740540724830958
- MaYYWuTFLiuYPGenetic and biochemical findings in Chinese children with Leigh syndromeJ Clin Neurosci201320111591159423953430
- FinstererJLeigh and Leigh-like syndrome in children and adultsPediatr Neurol200839422323518805359
- BrandtUEnergy converting NADH:quinone oxidoreductase (complex I)Annu Rev Biochem2006751699216756485
- LoeffenJSmeitinkJTriepelsRThe first nuclear-encoded complex I mutation in a patient with Leigh syndromeAm J Hum Genet1998636159816089837812
- TriepelsRHvan den HeuvelLPLoeffenJLLeigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex IAnn Neurol199945678779010360771
- HowellNKubackaISmithRFrermanFParksJKParkerWDJrAssociation of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh diseaseNeurology19964612192228559379
- ChalmersRMLamontPJNelsonIA mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndromeNeurology19974925895929270602
- SantorelliFMTanjiKSanoMMaternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp geneAnn Neurol19974222562609266739
- PiaoYSTangGCYangHLuDHClinico-neuropathological study of a Chinese case of familial adult Leigh syndromeNeuropathology200626321822116771178
- NaessKFreyerCBruhnHMtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndromeBiochim Biophys Acta20091787548449019103152
- Mkaouar-RebaiEChamkhaIKammounFTwo new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndromeMol Genet Metab200997317918419349200
- JiangYWQinJYuanYQiYWuXRNeuropathologic and clinical features in eight Chinese patients with Leigh diseaseJ Child Neurol200217645045212174968
- SanetoRPFriedmanSDShawDWNeuroimaging of mitochondrial diseaseMitochondrion200885–639641318590986
- ParikhSGoldsteinAKoenigMKScagliaFEnnsGMSanetoRMitochondrial Medicine Society Clinical Directors Working GroupMMS Clinical Director’s Work GroupPractice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesMitochondrion2014141263323891656
- BarkovichAJPediatric Neuroimaging4th edPhiladelphia, PALippincott Williams & Wilkins20058081
- ParikhSGoldsteinAKoenigMKClinical Director’s Work GroupPractice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and managementMitochondrion201313668168724063850
- MalfattiEBugianiMInvernizziFNovel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathyBrain2007130Pt 71894190417535832
- AndersenLWMackenhauerJRobertsJCBergKMCocchiMNDonninoMWEtiology and therapeutic approach to elevated lactate levelsMayo Clin Proc201388101127114024079682
- BaertlingFRodenburgRJSchaperJA guide to diagnosis and treatment of Leigh syndromeJ Neurol Neurosurg Psychiatry201485325726523772060
- MartinelliDCatterucciaMPiemonteFEPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh SyndromeMol Genet Metab2012107338338823010433
- SadunAAChicaniCFRoss-CisnerosFNEffect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathyArch Neurol201269333133822410442
- Bar-MeirMElpelegONSaadaAEffect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiencyJ Pediatr2001139686887011743516
- PinardJMMarsacCBarkaouiESyndrome de Leigh et leucodystrophie par déficit partiel en succinate déshydrogénase: régression sous riboflavine. [Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin]Arch Pediatr199964421426 French10230482
- MalojcicBBrinarVPoserCDjakovicVAn adult case of Leigh diseaseClin Neurol Neurosurg2004106323724015177775
- MoránMMarín-BueraLGil-BorladoMCCellular pathophysio-logical consequences of BCS1L mutations in mitochondrial complex III enzyme deficiencyHum Mutat201031893094120518024
- AntonickaHOstergaardESasarmanFMutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defectAm J Hum Genet201087111512220598281
- CalvoSETuckerEJComptonAGHigh-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencyNat Genet2010421085185820818383
- LenazGBaraccaACarelliVD’AurelioMSgarbiGSolainiGBioenergetics of mitochondrial diseases associated with mtDNA mutationsBiochim Biophys Acta200416581–2899415282179
- LevyRJRíosPGAkmanHOSciaccoMVivoDCDimauroSLong Survival in Patients With Leigh Syndrome and the m.10191T.C Mutation in MT-ND3: A Case Report and Review of the LiteratureJ Child Neurol Epub11272013
- MitchellALElsonJLHowellNTaylorRWTurnbullDMSequence variation in mitochondrial complex I genes: mutation or polymorphism?J Med Genet200643217517915972314
- KirbyDMBonehAChowCWLow mutant load of mitochondrial DNA G13513A mutation can cause Leigh’s diseaseAnn Neurol200354447347814520659
- KirbyDMKahlerSGFreckmannMLReddihoughDThorburnDRLeigh disease caused by the mitochondrial DNA G14459A mutation in unrelated familiesAnn Neurol200048110210410894222
- Fernandez-MoreiraDUgaldeCSmeetsRX-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathyAnn Neurol2007611738317262856
- HoefsSJDieterenCEDistelmaierFNDUFA2 complex I mutation leads to Leigh diseaseAm J Hum Genet20088261306131518513682
- PitceathlyRDRahmanSWedatilakeYUK10K ConsortiumNDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological diseaseCell Rep2013361795180523746447
- van den BoschBJGerardsMSluiterWDefective NDUFA9 as a novel cause of neonatally fatal complex I diseaseJ Med Genet2012491101522114105
- HoefsSJvan SpronsenFJLenssenEWNDUFA10 mutations cause complex I deficiency in a patient with Leigh diseaseEur J Hum Genet201119327027421150889
- BénitPSlamaACartaultFMutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndromeJ Med Genet2004411141714729820
- OstergaardESchwartzMBatbayliMA novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduriaEur J Pediatr2010169220120519526370
- HoefsSJDieterenCERodenburgRJBaculovirus comple-mentation restores a novel NDUFAF2 mutation causing complex I deficiencyHum Mutat2009307E728E73619384974
- BénitPChretienDKadhomNLarge-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiencyAm J Hum Genet20016861344135211349233
- MartínMABlázquezAGutierrez-SolanaLGLeigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 geneArch Neurol200562465966115824269
- TuppenHAHoganVEHeLThe p. M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesBrain2010133102952296320819849
- QuintanaAKruseSEKapurRPSanzEPalmiterRDComplex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndromeProc Natl Acad Sci U S A201010724109961100120534480
- AndersonSLChungWKFrezzoJA novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish familyJ Inherit Metab Dis200831S2(Suppl 2)S461S46719107570
- Leshinsky-SilverELebreASMinaiLNDUFS4 mutations cause Leigh syndrome with predominant brainstem involvementMol Genet Metab200997318518919364667
- LebonSMinaiLChretienDA novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndromeMol Genet Metab2007921–210410817604671
- LebonSRodriguezDBridouxDA novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndromeMol Genet Metab200790437938217275378
- MarinaADScharaUPyleANDUFS8-related Complex I Deficiency Extends Phenotype from “PEO Plus” to Leigh SyndromeJIMD Rep201310172223430795
- LissensWDe MeirleirLSenecaSMutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiencyHum Mutat200015320921910679936
- QuintanaEMayrJAGarcía SilvaMTPDH E1β deficiency with novel mutations in two patients with Leigh syndromeJ Inherit Metab Dis200932S1(Suppl 1)S339S34319924563
- SchiffMMinéMBrivetMLeigh’s disease due to a new mutation in the PDHX geneAnn Neurol200659470971416566017
- LimSCSmithKRStroudDAA founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndromeAm J Hum Genet201494220922224462369
- JoostKRodenburgRPiirsooAvan den HeuvelBZordaniaROunapKA novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathyPediatr Neurol201042322723020159436
- PagnamentaATHargreavesIPDuncanAJPhenotypic variability of mitochondrial disease caused by a nuclear mutation in complex IIMol Genet Metab200689321422116798039
- OhlenbuschAEdvardsonSSkorpenJLeukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiencyOrphanet J Rare Dis2012716922995659
- OstergaardEHansenFJSorensenNMitochondrial encepha-lomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutationsBrain2007130Pt 385386117287286
- WeraarpachaiWAntonickaHSasarmanFMutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndromeNat Genet200941783383719503089
- AtwalPSMutations in the complex III assembly factor tetratrico-peptide 19 gene TTC19 are a rare cause of Leigh syndromeJIMD ReportsBerlinSpringer2013
- BarelOShorerZFlusserHMitochondrial complex III deficiency associated with a homozygous mutation in UQCRQAm J Hum Genet20088251211121618439546