rs267606614 in ATP6;ND4;COX3;ND3;ND4L gene and Leigh Disease

PMID 11063732 2000 A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome.

rs199476136 in ATP8;ND3;COX3;ND4;ATP6;ND4L gene and Leigh Disease

PMID 23206802 2013 Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

PMID 24002810 2013 mtDNA lineage expansions in Sherpa population suggest adaptive evolution in Tibetan highlands.

PMID 8554662 1995 Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene.

PMID 22789932 2013 Defining the pathogenesis of human mtDNA mutations using a yeast model: the case of T8851C.

rs121908577 in BCS1L gene and Leigh Disease

PMID 25895478 2015 Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

PMID 19389488 2009 Pathogenic mutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complex III deficiency.

PMID 25914718 2015 Nuclear gene mutations as the cause of mitochondrial complex III deficiency.

PMID 24172246 2013 Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

PMID 17314340 2007 Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.

rs587776435 in COX1;TRNW;ND2 gene and Leigh Disease

PMID 19349200 2009 Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

rs587776444 in COX3;ND3;ATP6;ATP8;ND4;ND4L gene and Leigh Disease

PMID 23266623 2013 A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

rs587780529 in COX3;ND3;ND4L;ND4 gene and Leigh Disease

PMID 25118196 2014 Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

rs267606890 in COX3;ND4;ND3;ND4L gene and Leigh Disease

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 17535832 2007 Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.

PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

PMID 11456298 2001 Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

PMID 14764913 2004 A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

PMID 14705112 2004 De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.

rs149718203 in CUTC;COX15 gene and Leigh Disease

PMID 21412973 2011 Infantile cardioencephalopathy due to a COX15 gene defect: report and review.

PMID 15863660 2005 Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.

PMID 22310368 2012 Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.

PMID 26959537 2016 Leigh syndrome associated with a novel mutation in the COX15 gene.

PMID 15235026 2004 Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.

rs267606896 in CYTB;ND5 gene and Leigh Disease

PMID 11938446 2002 Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

PMID 12796552 2003 A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

PMID 17400793 2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 10589546 1999 The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.

PMID 14520659 2003 Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

PMID 14730434 2004 Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.

PMID 9299505 1997 Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

PMID 12624137 2003 The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

PMID 15521990 2004 Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma.

PMID 11198278 2001 A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.

PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

rs207459999 in CYTB;ND6 gene and Leigh Disease

PMID 11047755 2000 Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

rs1161932777 in EME2;MRPS34;NME3 gene and Leigh Disease

PMID 2877793 1986 Specific binding of Leu-enkephalin to small and large intestinal epithelial cells from guinea-pig.

rs373436822 in IARS2 gene and Leigh Disease

PMID 25130867 2014 Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.

rs201431517 in MTFMT gene and Leigh Disease

PMID 24461907 2014 Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

PMID 21907147 2011 Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

rs1352878283 in NCAPH2;SCO2 gene and Leigh Disease

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

rs199476118 in ND1;ND2 gene and Leigh Disease

PMID 12205655 2002 Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

PMID 18504678 2008 Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.

rs199476144 in ND1;TRNV gene and Leigh Disease

PMID 11799391 2002 Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.

PMID 9270602 1997 A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.

rs199474672 in ND2;COX1;TRNW gene and Leigh Disease

PMID 9266739 1997 Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

PMID 12776230 2003 Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.

rs587776434 in ND2;ND1 gene and Leigh Disease

PMID 18504678 2008 Progressive encephalopathy and complex I deficiency associated with mutations in MTND1.

rs199476123 in ND2;ND1;COX1 gene and Leigh Disease

PMID 15466014 2004 Mutations of the mitochondrial ND1 gene as a cause of MELAS.

PMID 15972314 2006 Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

PMID 16849371 2006 The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

PMID 21364701 2011 Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.

rs587776437 in ND3;ATP6;COX3;ND4;ND4L gene and Leigh Disease

PMID 20525945 2011 Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene.

rs1556423632 in ND3;COX3;ND4;ATP6;ND4L gene and Leigh Disease

PMID 16217706 2005 Two new mutations in the MTATP6 gene associated with Leigh syndrome.

rs199476138 in ND3;COX3;ND4;ND4L;ATP6 gene and Leigh Disease

PMID 9501263 1998 Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

PMID 8395787 1993 A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

PMID 17352390 2007 Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

PMID 16217706 2005 Two new mutations in the MTATP6 gene associated with Leigh syndrome.

PMID 9556461 1998 De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.

PMID 9270604 1997 Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

PMID 18461509 2007 Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

rs199476133 in ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and Leigh Disease

PMID 9270604 1997 Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

PMID 8190310 1994 A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

PMID 9501263 1998 Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

PMID 8602753 1996 Leigh syndrome: clinical features and biochemical and DNA abnormalities.

PMID 8395787 1993 A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

PMID 1436530 1992 Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.

PMID 9556461 1998 De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.

PMID 1550128 1992 Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

PMID 2137962 1990 A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

PMID 17352390 2007 Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

rs199476117 in ND3;ND4;ND4L;COX3 gene and Leigh Disease

PMID 14764913 2004 A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 16023078 2005 Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.

rs118192100 in ND3;TRNK;ATP8;COX2;COX3;ATP6 gene and Leigh Disease

PMID 11108511 2000 G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.

rs267606891 in ND4;COX3;ND3;ND4L gene and Leigh Disease

PMID 17152068 2007 A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.

PMID 19458970 2009 Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.

rs587776438 in ND4;ND3;ND4L;COX3 gene and Leigh Disease

PMID 20202874 2010 Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.

rs199476135 in ND4;ND4L;ND3;COX3;ATP6 gene and Leigh Disease

PMID 9556461 1998 De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.

PMID 9631394 1998 Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.

PMID 17352390 2007 Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

PMID 9270604 1997 Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

PMID 11119722 2000 The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.

PMID 11731285 2002 A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.

PMID 8395787 1993 A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

PMID 11382202 2000 A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.

PMID 9501263 1998 Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

PMID 7668837 1995 A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

PMID 11245730 2001 The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

rs1556423547 in ND4L;ATP8;ND3;ATP6;COX3;ND4 gene and Leigh Disease

PMID 24118886 2013 Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.

rs267606893 in ND5 gene and Leigh Disease

PMID 11938446 2002 Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

PMID 12796552 2003 A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

PMID 17317336 2007 Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects.

PMID 17400793 2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

rs199476105 in ND5;CYTB;ND6 gene and Leigh Disease

PMID 10894222 2000 Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.

PMID 8016139 1994 A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

PMID 8622678 1996 Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.

rs28384199 in ND5;ND4 gene and Leigh Disease

PMID 16120329 2003 A novel mtDNA C11777A mutation in Leigh syndrome.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

rs199476107 in ND5;ND6;CYTB gene and Leigh Disease

PMID 11781695 2001 An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

rs199476104 in ND6;CYTB;ND5 gene and Leigh Disease

PMID 12205655 2002 Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy.

PMID 14595656 2003 Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.

PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

PMID 16337195 2005 Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA.

rs137852863 in NDUFAF2 gene and Leigh Disease

PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

rs376281345 in NDUFS4 gene and Leigh Disease

PMID 12616398 2003 Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.

PMID 19107570 2008 A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

PMID 24020637 2014 Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.

PMID 19364667 2009 NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.

rs113994093 in POLG gene and Leigh Disease

PMID 18828154 2009 Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

rs759452074 in SCO2;NCAPH2 gene and Leigh Disease

PMID 26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

rs137852767 in SDHA gene and Leigh Disease

PMID 10746566 2000 Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

PMID 24781757 2015 SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

PMID 7550341 1995 Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.

rs121918657 in SURF1 gene and Leigh Disease

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 10636738 1999 Leigh syndrome transmitted by uniparental disomy of chromosome 9.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 22410471 2012 Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 10647889 1999 Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

PMID 14564068 2001 SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

PMID 10746561 2000 Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

PMID 9843204 1998 SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

PMID 25629267 2014 Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

PMID 24027061 2013 SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

PMID 16542579 2006 Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

PMID 12515039 2002 [A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].

PMID 27896082 2014 A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

PMID 16326995 2006 Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

PMID 18583168 2009 High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

PMID 21611066 2011 Leigh syndrome: MRI findings in two children.

PMID 22310368 2012 Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.

PMID 26341968 2015 Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.

PMID 10558868 1999 SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

PMID 24462369 2014 A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

PMID 14557577 2003 SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.

rs863224228 in SURF1;SURF2 gene and Leigh Disease

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

PMID 9837813 1998 Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 23829769 2013 SURF1 deficiency: a multi-centre natural history study.

PMID 18804471 2008 Respiratory mutations lead to different pleiotropic effects on OXPHOS complexes in yeast and in human cells.

rs782024654 in SURF2;SURF1 gene and Leigh Disease

PMID 10647889 1999 Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.

PMID 21937992 2011 Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

PMID 9843204 1998 SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome.

PMID 22410471 2012 Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

PMID 10746561 2000 Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients.

PMID 14564068 2001 SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.

PMID 22488715 2012 SURF1-associated Leigh syndrome: a case series and novel mutations.

PMID 27756633 2016 Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

rs118192098 in TRNK;COX3;COX2;ATP6;ATP8;ND3 gene and Leigh Disease

PMID 1678125 1991 Clinical spectrum of mitochondrial DNA mutation at base pair 8344.

PMID 8170567 1993 "Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA (""MERRF mutation"")."

rs199474657 in TRNL1;ND1;ND2 gene and Leigh Disease

PMID 10356136 1999 Infantile encephalopathy associated with the MELAS A3243G mutation.