MITOMAP References for Variant A8344G at 8344

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1678125 Berkovic, S. F., Shoubridge, E. A., Andermann, F., Andermann, E., Carpenter, S., Karpati, G. (1991) Clinical spectrum of mitochondrial DNA mutation at base pair 8344 Lancet . 338 (8764): 457 .
8041403 Calabresi, P.A., Silvestri, G., DiMauro, S., Griggs, R.C. (1994) Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF Muscle and Nerve . 17 (8): 943-945 .
8198140 Chomyn, A., Lai, S.T., Shakeley, R., Bresolin, N., Scarlato, G., Attardi, G. (1994) Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers American Journal of Human Genetics . 54 (6): 966-974 .
8454287 De Vries, D.D., De Wijs, I.J., Wolff, G., Ketelsen, U.P., Ropers, H.H., Van Oost, B.A. (1993) X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder Human Genetics . 91 (1): 51-54 .
8386419 Franceschetti, S., Antozzi, C., Binelli, S., Carrara, F., Nardocci, N., Zeviani, M., Avanzini, G. (1993) Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases Acta Neurologica Scandinavica . 87 (3): 219-223 .
8388680 Graf, W.D., Sumi, S.M., Copass, M.K., Ojemann, L.M., Longstreth, W.T., Jr., Shanske, S., Lombes, A., DiMauro, S. (1993) Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA Annals of Neurology . 33 (6): 640-645 .
8513395 Hammans, S.R., Sweeney, M.G., Brockington, M., Lennox, G.G., Lawton, N.F., Kennedy, C.R., Morgan-Hughes, J.A., Harding, A.E. (1993) The mitochondrial DNA transfer RNALys A-G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA Brain . 116 (Pt 3): 617-632 .
1674297 Hammans, S.R., Sweeney, M.G., Brockington, M., Morgan-Hughes, J.A., Harding, A.E. (1991) Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples Lancet . 337 (8753): 1311-1313 .
1606473 Hammans, S.R., Sweeney, M.G., Wicks, D.A., Morgan-Hughes, J.A., Harding, A.E. (1992) A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies Brain . 115 (Pt 2): 343-365 .
8447321 Holme, E., N.G., L., Oldfors, A., Tulinius, M., Sahlin, P., Stenman, G. (1993) Multiple symmetric lipomas with high levels of mtDNA with the tRNALys A-G (8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome American Journal of Human Genetics . 52 (3): 551-556 .
1709275 Lauber, J., Marsac, C., Kadenbach, B., Seibel, P. (1991) Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases Nucleic Acids Research . 19 (7): 1393-1397 .
1487239 Lertrit, P., Noer, A.S., Byrne, E., Marzuki, S. (1992) Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy Human Genetics . 90 (3): 251-254 .
8492942 Matthews, P.M., Ford, B., Dandurand, R.J., Eidelman, D.H., O'Connor, D., Sherwin, A., Karpati, G.,ermann, F., Arnold, D.L. (1993) Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease Neurology . 43 (5): 884-890 .
8428629 Munscher, C., Rieger, T., Muller-Hocker, J., Kadenbach, B. (1993) The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages FEBS Letters . 317 (40545): 27-30 .
1910259 Noer, A.S., Sudoya, H., Lertrit, P., Thyagarajan, D., Utthanaphol, P., Kapsa, R., Byrne, E., Marzuki, S. (1991) A tRNALys mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome American Journal of Human Genetics . 49 (4): 715-722 .
8228033 Ohtsuka, Y., Amano, R., Oka, E., Ohtahara, S. (1993) Myoclonus epilepsy with ragged-red fibers: a clinical and electrophysiologic follow-up study on two sibling cases Journal of Child Neurology . 8 (4): 366-372 .
1324294 Penisson-Besnier, I., Degoul, F., Desnuelle, C., Dubas, F., Josi, K., Emile, J., Lestienne, P. (1992) Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins Journal of the Neurological Sciences . 110 (40545): 144-148 .
1661776 Seibel, P., Degoul, F., Bonne, G., Romero, N., Francois, D., Paturneau-Jouas, M., Ziegler, F., Eymard, B., Fardeau, M., Marsac, C., Kadenback, B. (1991) Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF) Journal of the Neurological Sciences . 105 (2): 217-224 .
2112427 Shoffner, J. M., Lott, M. T., Lezza, A. M., Seibel, P., Ballinger, S. W., Wallace, D. C. (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation Cell . 61 (6): 931-937 .
1962048 Shoffner, J. M., Lott, M. T., Wallace, D. C. (1991) MERRF: A model disease for understanding the principles of mitochondrial genetics Revue Neurologique (Paris) . 147 (40701): 431-435 .
8170567 Silvestri, G., Ciafaloni, E., Santorelli, F.M., Shanske, S., Servidei, S., Graf, W.D., Sumi, M., DiMauro, S. (1993) Clinical features associated with the A-G transition at nucleotide 8344 of mtDNA ('MERRF mutation') Neurology . 43 (6): 1200-1206 .
1431990 Suomalainen, A., Ciafaloni, E., Koga, Y., Peltonen, L., DiMauro, S., Shon, E. (1992) Use of single strand conformational polymorphisms analysis to detect point mutations in human mitochondrial DNA Journal of the Neurological Sciences . 111 (2): 222-226 .
8133313 Sweeney, M.G., Hammans, S.R., Duchen, L.W., Cooper, J.M., Schapira, A.H., Kennedy, C.R., Jacobs, J.M., Youl, B.D., Morgan-Hughes, J.A., Harding, A.E. (1994) Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy Journal of the Neurological Sciences . 121 (1): 57-65 .
1910341 Tanno, Y., Yondea, M., Nonaka, I., Tanaka, K., Miyatake, T., Tsuji, S. (1991) Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients Biochemical and Biophysical Research Communications . 179 (2): 880-885 .
8006688 Thompson, P.D., Hammans, S.R., Harding, A.E. (1994) Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNALys(8344) (MERRF) mutation Journal of Neurology . 241 (5): 335-340 .
3180221 Wallace, D.C., Zheng, X., Lott, M.T., Shoffner, J.M., Hodge, J.A., Kelley, R.I., Epstein, C.M., Hopkins, L.C. (1988) Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease Cell . 55 (4): 601-610 .
8139569 Yoneda, M., Miyatake, T., G., A. (1994) Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles Molecular and Cellular Biology . 14 (4): 2699-2712 .
2124116 Yoneda, M., Tanno, Y., Horai, S., Ozawa, T., Miyatake, T., Tsuji, S. (1990) A common mitochondrial DNA mutation in the tRNALys of patients with myoclonus epilepsy associated with ragged-red fibers Biochemistry International . 21 (5): 789-796 .
1899320 Zeviani, M., Amati, P., Bresolin, N., Antozzi, C., Piccolo, G., Toscano, A., DiDonato, S. (1991) Rapid detection of the A-G (8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF) American Journal of Human Genetics . 48 (2): 203-211 .
1334369 Boulet, L., Karpati, G., Shoubridge, E. A. (1992) Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF) American Journal of Human Genetics . 51 (6): 1187-1200 .
7850981 Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M., Tanaka, H. (1995) Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation . 91 (4): 955-961 .
7837776 Campos, Y., Bautista, J., Gutierrez-Rivas, E., Llabres, J., Lorenzo, G., Arenas, J. (1994) Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA Journal of Inherited Metabolic Disease . 17 (5): 634-635 .
7647790 Enriquez, J. A., Chomyn, A., Attardi, G. (1995) MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination Nature Genetics . 10 (1): 47-55 .
7603535 Fukuhara, N. (1995) Clinicopathological features of MERRF Muscle and Nerve . 3 (4): S90-S94 .
1463006 Larsson, N.G., Tulinius, M.H., Holme, E., Oldfors, A.,ersen, O., Wahlstrom, J., Aasly, J. (1992) Segregation and manifestations of the mtDNA tRNALys A-G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome American Journal of Human Genetics . 51 (6): 1201-1212 .
7603509 Larsson, N.G., Tulinius, M.H., Holme, E., Oldfors, A. (1995) Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas Muscle and Nerve . 3 (6): S102-106 .
7739567 Masucci, J. P., Davidson, M., Koga, Y., Schon, E. A., King, M. P. (1995) In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALysgene: two genotypes produce similar phenotypes Molecular and Cellular Biology . 15 (5): 2872-2881 .
7882812 Suzuki, S., Hinokio, Y., Hirai, S., Onoda, M., Matsumoto, M., Ohtomo, M., Kawasaki, H., Satoh, Y., Akai, H., Abe, K., Toyota, T. (1994) Diabetes with mitochondrial gene tRNALys mutation Diabetes Care . 17 (12): 1428-1432 .
7603536 Yoneda, M., Miyatake, T., Attardi, G. (1995) Heteroplasmic mitochondrial tRNALys mutation and its complementation in MERRF patient-derived mitochondrial transformants Muscle and Nerve . 3 (101): S95-101 .
9365365 Chinnery, P.F., Howell, N., Lightowlers, R.N., Turnbull, D.M. (1997) Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes Brain . 120 (Pt 10): 1713-1721 .
9541428 Isashiki, Y., Nakagawa, M., Ohba, N., Kamimura, K., Sakoda, Y., Higuchi, I., Izumo, S., Osame, M. (1998) Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation Acta Ophthalmologica Scandinavica . 76 (1): 6-13 .
9384601 Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M., Amselem, S. (1998) Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders Human Molecular Genetics . 7 (1): 33-42 .
9798744 Chinnery, P.F., Howell, N., Lightowlers, R.N., Turnbull, D.M. (1998) MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring Brain . 121 (Pt 10): 1889-1894 .
9883816 Wang, Y.L., Choi, H.K., Aul, C., Gattermann, N., Heinisch, J. (1999) The MERRF mutation of mitochondrial DNA in the bone marrow of a patient with acquired idiopathic sideroblastic anemia American Journal of Hematology . 60 (1): 83-84 .
9818878 Austin, S.A., Vriesendorp, F.J., Thandroyen, F.T., Hecht, J.T., Jones, O.T., Johns, D.R. (1998) Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation Neurology . 51 (5): 1447-1450 .
9851442 Santorelli, F.M., Tanji, K., Shanske, S., Krishna, S., Schmidt, R.E., Greenwood, R.S., DiMauro, S., De Vivo, D.C. (1998) The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past Annals of Neurology . 44 (6): 962-964 .
8602753 Rahman, S., Blok, R.B., Dahl, H.H., Danks, D.M., Kirby, D.M., Chow, C.W., Christodoulou, J., Thorburn, D.R. (1996) Leigh syndrome: clinical features and biochemical and DNA abnormalities Annals of Neurology . 39 (3): 343-351 .
10426322 Brini, M., Pinton, P., King, M.P., Davidson, M., Schon, E.A., Rizzuto, R. (1999) A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency Nature Medicine . 5 (8): 951-954 .
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8622733 Chen, R. S., Huang, C. C., Chu, N. S., Chu, C. C., Shih, K. D., Pang, C. Y., Wei, Y. H. (1996) Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome Muscle and Nerve . 19 (4): 519-521 .
10862082 Rubio-Gozalbo, M. E., Dijkman, K. P., van den Heuvel, L. P., Sengers, R. C., Wendel, U., Smeitink, J. A. (2000) Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations Human Mutation . 15 (6): 522-532 .
10939569 Chinnery, P. F., Johnson, M. A., Wardell, T. M., Singh-Kler, R., Hayes, C., Brown, D. T., Taylor, R. W., Bindoff, L. A., Turnbull, D. M. (2000) The epidemiology of pathogenic mitochondrial DNA mutations Annals of Neurology . 48 (2): 188-193 .
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11335700 Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B., Lombes, A. (2001) Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders Brain . 124 (Pt 5): 984-994 .
11074292 Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N., Howell, N. (2000) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends in Genetics . 16 (11): 500-505 .
16947981 Ruiz-Pesini, E., Wallace, D. C. (2006) Evidence for adaptive selection acting on the tRNA and rRNA genes of the human mitochondrial DNA Human Mutation . 27 (11): 1072-1081 .
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15317755 Kolesnikova, O. A., Entelis, N. S., Jacquin-Becker, C., Goltzene, F., Chrzanowska-Lightowlers, Z. M., Lightowlers, R. N., Martin, R. P., Tarassov, I. (2004) Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells Human Molecular Genetics . 13 (20): 2519-2534 .
15164143 Vallance, H. D., Jeven, G., Wallace, D. C., Brown, M. D. (2004) A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation Pediatric Cardiology . 25 (5): 538-540 .
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16483543 Cassandrini, D., Calevo, M. G., Tessa, A., Manfredi, G., Fattori, F., Meschini, M. C., Carrozzo, R., Tonoli, E., Pedemonte, M., Minetti, C., Zara, F., Santorelli, F. M., Bruno, C. (2006) A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Biochemical and Biophysical Research Communications . 342 (2): 387-393 .
16815877 Jeppesen, T. D., Schwartz, M., Olsen, D. B., Wibrand, F., Krag, T., Duno, M., Hauerslev, S., Vissing, J. (2006) Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy Brain . 129 (Pt 12): 3402-3412 .
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25652200 Gorman, G. S., Schaefer, A. M., Ng, Y., Gomez, N., Blakely, E. L., Alston, C. L., Feeney, C., Horvath, R., Yu-Wai-Man, P., Chinnery, P. F., Taylor, R. W., Turnbull, D. M., McFarland, R. (2015) Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease Annals of Neurology . 77 (5): 753-759 .
26995359 Altmann, J., Buchner, B., Nadaj-Pakleza, A., Schafer, J., Jackson, S., Lehmann, D., Deschauer, M., Kopajtich, R., Lautenschlager, R., Kuhn, K. A., Karle, K., Schols, L., Schulz, J. B., Weis, J., Prokisch, H., Kornblum, C., Claeys, K. G., Klopstock, T. (2016) Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: data from the German mitoNET registry Journal of Neurology . 263 (5): 961–972 .
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