| 1 | 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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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | 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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| 8 | 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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| 9 | 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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| 10 | 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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| 11 | 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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| 12 | 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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| 13 | 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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| 14 | 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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| 15 | 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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| 16 | 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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| 17 | 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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| 18 | 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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| 19 | 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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| 20 | 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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| 21 | 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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| 22 | 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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| 23 | 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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| 24 | 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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| 25 | 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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| 26 | 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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| 27 | 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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| 28 | 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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| 29 | 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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| 30 | 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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| 31 | 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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| 32 | 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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| 33 | 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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| 34 | 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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| 35 | 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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| 36 | 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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| 37 | 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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| 38 | 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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| 39 | 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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| 40 | 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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| 41 | 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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| 42 | 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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| 43 | 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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| 44 | 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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| 45 | 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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| 46 | 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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| 47 | 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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| 48 | 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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| 49 | 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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| 50 | 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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| 51 | 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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| 52 | 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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| 53 | 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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| 54 | MELAS
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| A specific point mutation in the mitochondrial genome of Caucasians with MELAS.
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| Enter C, et al.
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| Hum Genet 88 : 233-236. 1991
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| 55 | 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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| 56 | 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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| 57 | 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
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