| 1 | 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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| 2 | 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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| 3 | MT-RNR1, MT-TL1, MTTK, MTTS1, TRNE
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| Mitochondrial deafness.
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| Kokotas H, Petersen MB, Willems PJ.
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| Clin Genet 71(5):379-91. 2007
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| 4 | 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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| 5 | 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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| 6 | 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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| 7 | MEM, MT-TL1
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| A new point mutation associated with mitochondrial encephalomyopathy.
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| Morten KJ, Cooper JM, Brown GK, Lake BD, Pike D, Poulton J.
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| Hum Mol Genet 2(12):2081-7. 1993
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| 8 | INIDM, MT-TL1, MTDM
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| Mutation in mitochondrial tRNA Leu(UUR)gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness.
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| Van den Ouweland JMW, et al.
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| Nat Genet 1 : 368-371. 1992
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| 9 | INIDM, MT-TL1, MTDM
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| Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA.
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| Reardon W, et al.
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| Lancet 340 : 1376-1379. 1992
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