rs794726857 in ATP6;ATP8;ND4L;ND3;COX3;ND4 gene and MELAS Syndrome

PMID 25037980 2014 Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

PMID 27812026 2016 Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy.

PMID 29350304 2018 Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

rs118192099 in ATP6;COX3;ND3;COX2;TRNK;ATP8 gene and MELAS Syndrome

PMID 1361099 1992 A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

rs111033319 in ATP8;COX3;COX1;ATP6;TRNS1;COX2 gene and MELAS Syndrome

PMID 7581383 1995 Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

rs121434468 in COX1;ND1;TRNI;ND2 gene and MELAS Syndrome

PMID 11782991 2002 Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations.

rs121434458 in COX1;ND2;COX2;TRNA gene and MELAS Syndrome

PMID 19718780 2009 Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

PMID 16476954 2006 Pure myopathy associated with a novel mitochondrial tRNA gene mutation.

rs199474817 in COX2;COX3;TRNS1;COX1;ATP6;ATP8 gene and MELAS Syndrome

PMID 7669057 1995 A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.

rs199474818 in COX3;COX1;ATP6;COX2;ATP8 gene and MELAS Syndrome

PMID 8019558 1994 A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

rs387906419 in COX3;COX1;COX2;TRNS1;ATP8;ATP6 gene and MELAS Syndrome

PMID 9778262 1998 Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

PMID 14605505 2003 Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene.

PMID 20064630 2010 Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

PMID 16199753 2005 A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations.

rs267606894 in CYTB;ND5 gene and MELAS Syndrome

PMID 15767514 2005 Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

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

PMID 12509858 2003 Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

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

rs387906421 in CYTB;TRNE;ND6 gene and MELAS Syndrome

PMID 19720722 2009 Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

rs199476122 in ND1;ND2 gene and MELAS Syndrome

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

PMID 17562939 2007 A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

PMID 16969869 2006 Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.

PMID 24830958 2014 Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.

PMID 18977334 2009 Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

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

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

rs199474666 in ND1;ND2;TRNL1 gene and MELAS Syndrome

PMID 11723298 2001 A mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.

PMID 16384802 2006 Review of the literature on major mental disorders in adult patients with mitochondrial diseases.

rs199474658 in ND1;TRNL1;ND2 gene and MELAS Syndrome

PMID 1932147 1991 A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).

PMID 8280119 1993 Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function.

PMID 8111377 1993 A new point mutation associated with mitochondrial encephalomyopathy.

PMID 8265770 1993 Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene.

PMID 8786060 1996 Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.

rs199476143 in ND1;TRNV gene and MELAS Syndrome

PMID 9450773 1998 A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

PMID 12056939 2002 Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.

PMID 20064630 2010 Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

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

PMID 17886296 2008 Prevalence of mitochondrial DNA disease in adults.

PMID 18400783 2008 Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation.

PMID 25652200 2015 Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.

rs201212638 in ND2;ND1 gene and MELAS Syndrome

PMID 8723687 1996 A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus.

rs193303018 in ND2;ND1;TRNL1 gene and MELAS Syndrome

PMID 22781753 2012 Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

PMID 15870203 2005 Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.

PMID 19460299 2009 Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

PMID 8132749 1994 Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy.

PMID 8210299 1993 Mitochondrial DNA transfer RNA mutation Leu(UUR)A-->G 3260: a second family with myopathy and cardiomyopathy.

PMID 7520241 1994 A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

rs199474660 in ND2;TRNL1;ND1 gene and MELAS Syndrome

PMID 9841711 1999 Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene.

PMID 7906985 1994 A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

rs118192100 in ND3;TRNK;ATP8;COX2;COX3;ATP6 gene and MELAS Syndrome

PMID 8651277 1996 Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

rs121434474 in ND4;TRNH;ND5 gene and MELAS Syndrome

PMID 15111688 2004 Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

PMID 14967777 2004 Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.

rs199476113 in ND5;ND4;ND4L gene and MELAS Syndrome

PMID 1323207 1992 A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I.

rs199476107 in ND5;ND6;CYTB gene and MELAS Syndrome

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

rs121434453 in TRNE;ND6;CYTB gene and MELAS Syndrome

PMID 7726154 1995 Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus.

rs118203885 in TRNF gene and MELAS Syndrome

PMID 19718780 2009 Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

PMID 16806928 2006 Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene.

PMID 9771776 1998 MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

PMID 20142618 2010 Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.

PMID 14597761 2003 Mitochondrial DNA mutations in human colonic crypt stem cells.

PMID 18842121 2008 Limited clinical relevance of mitochondrial DNA mutation and gene expression analyses in ovarian cancer.

rs118192098 in TRNK;COX3;COX2;ATP6;ATP8;ND3 gene and MELAS Syndrome

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

rs199474657 in TRNL1;ND1;ND2 gene and MELAS Syndrome

PMID 11085913 2001 Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

rs199474659 in TRNL1;ND2;ND1 gene and MELAS Syndrome

PMID 8254046 1993 Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?

PMID 7804130 1994 A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).

rs121434462 in TRNL2;ND4;ND5 gene and MELAS Syndrome

PMID 9361028 1997 Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy.

PMID 8923013 1996 A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy.

PMID 19718780 2009 Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

PMID 18977334 2009 Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

PMID 12398839 2002 Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.

rs199474701 in TRNP;ND6;CYTB gene and MELAS Syndrome

PMID 19273760 2009 A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.

PMID 19718780 2009 Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?

rs199474821 in TRNS1;COX3;COX2;ATP8;COX1;ATP6 gene and MELAS Syndrome

PMID 10371545 1999 Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.

rs199474673 in TRNW;ND2;COX1 gene and MELAS Syndrome

PMID 9673981 1998 A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.