| 1 | MELAS, MT-TL1
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| Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.
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| Beecher G, Gavrilova RH, Mandrekar J, Naddaf E.
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| Brain Commun. Feb 14;6(2):fcae041. doi: 10.1093/braincomms/fcae041. 2024
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| 2 | MELAS, MT-TL1
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| A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case
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| Giannese D, Montano V, Lopriore P, Nesti C, LoGerfo A, Caligo MA, Dal Canto F, Pasquinelli G, Bonadio AG, Moriconi D, Siciliano G, Mancuso M.
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| J Neuromuscul Dis. 2023;10(1):119-123. doi: 10.3233/JND-221526 2023
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| 3 | MELAS, MT-TL1
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| Forecasting stroke-like episodes and outcomes in mitochondrial disease.
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| Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS.
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| Brain. Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. 2022
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| 4 | MELAS, MT-ND5
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| Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene.
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| Sonam K, Bindu PS, Taly AB, Govindaraju C, Gayathri N, Arvinda HR, Nagappa M, Sinha S, Khan NA, Govindaraj P, Thangaraj K.
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| Neuropediatrics europediatrics. 2015 May 14. [Epub ahead of print]
2015
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| 5 | MELAS, MERRF, MT-TL1
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| MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.
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| Liu K, Zhao H, Ji K, Yan C.
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| Metab Brain Dis. Mar;29(1):139-44. doi: 10.1007/s11011-013-9464-5. Epub 2013 Dec 12 2014
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| 6 | MELAS, MT-TL1
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| MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation.
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| Connolly BS, Feigenbaum AS, Robinson BH, Dipchand AI, Simon DK, Tarnopolsky MA.
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| Biochem Biophys Res Commun 402(2):443-7. Epub 2010 Oct 20.
2010
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| 7 | MELAS, MT-TL1
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| The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.
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| Sotiriou E, Coku J, Tanji K, Huang HB, Hirano M, DiMauro S.
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| Neuromuscul Disord 19(4):297-9. Epub 2009 Mar 13.
2009
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| 8 | MELAS, MT-CO2
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| Isolated cytochrome c oxidase deficiency as a cause of MELAS.
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| Rossmanith W, Freilinger M, Roka J, Raffelsberger T, Moser-Thier K, Prayer D, Bernert G, Bittner RE.
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| J Med Genet 45(2):117-21. 2008
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| 9 | LHON, MELAS, MERRF, NARP
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| Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
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| Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V.
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| Biochim Biophys Acta iochim Biophys Acta. 2008 Oct 15. [Epub ahead of print]
2008
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| 10 | MELAS, MT-TS1
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| MELAS syndrome in a patient with a point mutation in MTTS1.
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| Lindberg C, Moslemi AR, Oldfors A.
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| Acta Neurol Scand 117(2):128-32. Epub 2007 Sep 25.PMID: 17894844 2008
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| 11 | MELAS, MT-ND1
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| The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA.
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| Horváth R, Reilmann R, Holinski-Feder E, Ringelstein EB, Klopstock T.
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| Neuromuscul Disord 18(7):553-6. Epub 2008 Jun 30.
2008
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| 12 | MT-ND5, MELAS
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| Mitochondrial ND5 Gene Variation Associated with Encephalomyopathy and Mitochondrial ATP Consumption.
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| McKenzie M, Liolitsa D, Akinshina N, Campanella M, Sisodiya S, Hargreaves I, Nirmalananthan N, Sweeney MG, Abou-Sleiman PM, Wood NW, Hanna MG, Duchen MR.
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| J Biol Chem 282(51):36845-52. Epub 2007 Oct 16. 2007
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| 13 | MELAS, MT-ND5, MT-ND4, MT-ND1
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| Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect.
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| Kirino Y, Yasukawa T, Marjavaara SK, Jacobs HT, Holt IJ, Watanabe K, Suzuki T.
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| Hum Mol Genet 15(6):897-904. Epub 2006 Jan 30. 2006
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| 14 | MELAS, MT-ND1, NDUFV3
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| The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.
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| Kervinen M, Hinttala R, Helander HM, Kurki S, Uusimaa J, Finel M, Majamaa K, Hassinen IE.
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| Hum Mol Genet 15(17):2543-52. Epub 2006 Jul 18. 2006
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| 15 | MELAS, MT-TL1
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| An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype.
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| Kanaumi T, Hirose S, Goto Y, Naitou E, Mitsudome A.
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| Pediatr Neurol 34(3):235-8. 2006
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| 16 | MELAS, MT-TL1
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| Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene.
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| Maniura-Weber K, Helm M, Engemann K, Eckertz S, Möllers M, Schauen M, Hayrapetyan A, von Kleist-Retzow JC, Lightowlers RN, Bindoff LA, Wiesner RJ.
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| Nucleic Acids Res 34(22):6404-15. Epub 2006 Nov 27. 2006
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| 17 | LHON, MELAS, MT-ND1
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| LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
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| Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW.
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| Eur J Hum Genet 13(5):623-7. 2005
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| 18 | MELAS, MME1, MT-TL1, MT-TW, MTMD, TRNE
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| Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.
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| Anitori R, Manning K, Quan F, Weleber RG, Buist NR, Shoubridge EA, Kennaway NG.
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| Mol Genet Metab 84(2):176-88. Epub 2004 Dec 15. 2005
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| 19 | MELAS, MT-ND1
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| A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.
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| Coulbault L, Herlicoviez D, Chapon F, Read MH, Penniello MJ, Reynier P, Fayet G, Lombes A, Jauzac P, Allouche S.
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| Biochem Biophys Res Commun 329(3):1152-4. 2005
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| 20 | MT-ND1, MELAS
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| Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene.
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| Hutchison WM, Thyagarajan D, Poulton J, Marchington DR, Kirby DM, Manji SS, Dahl HH.
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| Arch Neurol 62(12):1920-3. 2005
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| 21 | ADGRG1, BFPP, BPP, COFS1, COFS2, DEL22Q11, DEL4Q, EMX2, KMS, MELAS, RTT
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| Genetics of the polymicrogyria syndromes.
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| Jansen A, Andermann E.
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| J Med Genet 42(5):369-78. Review. 2005
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| 22 | MELAS, MT-ND1
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| Mutations of the mitochondrial ND1 gene as a cause of MELAS.
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| Kirby DM, McFarland R, Ohtake A, Dunning C, Ryan MT, Wilson C, Ketteridge D, Turnbull DM, Thorburn DR, Taylor RW.
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| J Med Genet 41(10):784-9. No abstract available. 2004
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| 23 | MELAS, MT-ND5
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| A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
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| Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MP, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G, Comi GP.
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| Neurology 60(11):1857-61. 2003
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| 24 | MELAS
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| MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study.
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| Tanahashi C, Nakayama A, Yoshida M, Ito M, Mori N, Hashizume Y.
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| Acta Neuropathol (Berl) 99(1):31-8. 2000
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| 25 | MELAS
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| Higher proportion of mitochondrial A3243G mutation in blood than in skeletal muscle in a patient with cardiomyopathy and hearing loss.
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| Deschauer M, Neudecker S, Muller T, Gellerich FN, Zierz S.
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| Mol Genet Metab 70(3):235-7. 2000
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| 26 | MELAS
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| A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
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| De Coo IF, et al.
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| Ann Neurol 45(1):130-3. 1999
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| 27 | MELAS
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| Infantile encephalopathy associated with the MELAS A3243G mutation.
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| Sue CM, et al.
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| J Pediatr 134(6):696-700. 1999
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| 28 | MELAS
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| Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T).
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| Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON.
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| Biochem Biophys Res Commun 233(3):637-9. 1997
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| 29 | MELAS
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| Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice.
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| Hanna MG, Vaughan JR, Silburn PA, Davis PT, Greenhall RC, Squier MV, Mills KR, Renowden S, Sellar A.
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| J Neurol Neurosurg Psychiatry 62(5):544-6. 1997
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| 30 | MELAS
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| Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
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| Santorelli FM, Tanji K, Kulikova R, Shanske S, Vilarinho L, Hays AP, DiMauro S.
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| Biochem Biophys Res Commun 238(2):326-8. 1997
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| 31 | MELAS
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| Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation.
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| Sue CM, Mitchell P, Crimmins DS, Moshegov C, Byrne E, Morris JG.
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| Neurology 49(4):1013-7. 1997
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| 32 | MELAS
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| Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNALeu(UUR) mutation in encephalomyopathy and cardiomyopathy.
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| Kovalenko SA, et al.
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| Biochem Biophys Res Commun 222 : 201-207. 1996
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| 33 | MELAS
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| MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA.
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| Li JY, et al.
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| Acta Neurol Scand 93 : 450-455. 1996
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| 34 | MELAS
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| 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.
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| Fu K, et al.
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| Hum Mol Genet 5 : 1835-1840. 1996
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| 35 | MELAS
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| Acute pancreatitis in an infant with lactic acidosis and a mutation at nucleotide 3243 in the mitochondrial DNA tRNALeu(UUR) gene.
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| Kishnani PS, et al.
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| Eur J Pediatr 155 : 898-903. 1996
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| 36 | MELAS
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| The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
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| Nishino I, et al.
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| Muscle Nerve 19 : 1603-1604. 1996
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| 37 | MELAS
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| A novel mutation in the mitochondrial tRNAThr gene associated with a mitochondrial encephalomyopathy.
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| Nishino I, et al.
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| Biochem Biophys Res Commun 225 : 180-185. 1996
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| 38 | MELAS
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| A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy.
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| Santorelli FM, et al.
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| Biochem Biophys Res Commun 216 : 835-840. 1995
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| 39 | MERRF, MELAS
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| A novel point mutation in the mitochondrial tRNASer(UCN) gene detected in a family with MERRF/MELAS overlap syndrome.
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| Nakamura M, et al.
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| Biochem Biophys Res Commun 214 : 86-93. 1995
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| 40 | MELAS, MERRF
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| Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene.
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| Shoffner JM, et al.
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| Neurology 45 : 286-292. 1995
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| 41 | MELAS
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| Multiple independent occurrence of the 3243 mutation in mitochondrial tRNAleuUUR in patients with the MELAS phenotype.
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| Morten KJ, et al.
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| Hum Mol Genet 4 : 1689-1691. 1995
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| 42 | MELAS
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| Point mutation in platelet mitochondrial tRNA Leu(UUR) in patient with cluster headache.
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| Shimomura T, et al.
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| Lancet 344 : 625. 1994
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| 43 | MELAS
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| Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation.
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| de Vries D, et al.
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| J Neurol Sci 124 : 77-82. 1994
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| 44 | MELAS
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| A mitochondrial tRNALeu(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
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| Sato W, et al.
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| Biochem Mol Biol Int 33 : 1055-1061. 1994
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| 45 | MELAS
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| 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).
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| Goto YI, et al.
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| Biochem Biophys Res Commun 202 : 1624-1630. 1994
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| 46 | MELAS
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| Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation.
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| Hara H, et al.
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| J Neurol Neurosurg Psychiatry 57 : 1545-1546. 1994
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| 47 | MELAS
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| Evidence for the 3271 mutation in the mitochondrial transfer RNA gene relating to mitochondrial encephalomyopathies.
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| Goto Y, et al.
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| Am J Hum Genet 53 : 1166. 1993
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| 48 | MELAS
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| Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA-Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes.
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| King MP, et al.
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| Mol Cell Biol 12 : 480-490. 1992
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| 49 | MELAS
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| Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
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| Sato W, et al.
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| Am J Hum Genet 50 : 655-657. 1992
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| 50 | MELAS
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| The mitochondrial tRNA-Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) : genetic, biochemical, and morphological correlations in skeletal muscle.
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| Moraes CT, et al.
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| Am J Hum Genet 50 : 934-949. 1992
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| 51 | MELAS
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| MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.
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| Chomyn A, et al.
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| Proc Natl Acad Sci U S A 89 : 4221-4225. 1992
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| 52 | MELAS
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| A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex 1.
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| Lertrit P, et al.
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| Am J Hum Genet 51 : 457-468. 1992
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| 53 | MELAS, MEM
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| A novel point mutation in the mitochondrial tRNA-Leu(UUR) gene in a family with mitochondrial myopathy.
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| Goto Y, et al.
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| Ann Neurol 31 : 672-675. 1992
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| 54 | MELAS
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| Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies.
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| Hess JF, et al.
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| Nature 351 : 236-239. 1991
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| 55 | MELAS
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| Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS).
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| Tanaka M, et al.
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| Biochem Biophys Res Commun 174 : 861-868. 1991
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| 56 | MELAS
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| Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS).
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| Kobayashi Y, et al.
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| Am J Hum Genet 49 : 590-599. 1991
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| 57 | MELAS
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| A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
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| Goto Y, et al.
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| Biochim Biophys Acta 1097 : 238-240. 1991
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| 58 | MELAS
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| A specific point mutation in the mitochondrial genome of Caucasians with MELAS.
|
| Enter C, et al.
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| Hum Genet 88 : 233-236. 1991
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| 59 | MELAS
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| Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy.
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| Ino H, et al.
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| Lancet 337 : 234-235. 1991
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| 60 | MELAS
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| A point mutation in the mitochondrial tRNA-Leu (UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).
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| Kobayashi Y, et al.
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| Biochem Biophys Res Commun 173 : 816-822. 1990
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| 61 | MELAS
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| A mutation in the tRNA-Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
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| Goto Y, et al.
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| Nature 348 : 651-653. 1990
|