MITOMAP References for Variant A8344G at 8344

Download PMID list

PMID Reference
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 .
11160915 Szuhai, K., Ouweland, J., Dirks, R., Lemaitre, M., Truffert, J., Janssen, G., Tanke, H., Holme, E., Maassen, J., Raap, A. (2001) Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR Nucleic Acids Research . 29 (3): E13 .
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 .
10611124 Mirabella, M., Di Giovani, S., Silvestri, G., Tonali, P., Servidei, S. (2000) Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: A potential pathogenic mechanism. Brain . 123 (Pt 1): 93-104 .
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 .
15619607 Mahata, B., Bhattacharyya, S. N., Mukherjee, S., Adhya, S. (2005) Correction of translational defects in patient-derived mutant mitochondria by complex-mediated import of a cytoplasmic tRNA Journal of Biological Chemistry . 280 (7): 5141-5144 .
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 .
15683723 Canter, J. A., Eshaghian, A., Fessel, J., Summar, M. L., Roberts, L. J., Morrow, J. D., Sligh, J. E., Haines, J. L. (2005) Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation Free Radical Biology and Medicine . 38 (5): 678-683 .
17236134 Zsurka, G., Hampel, K. G., Kudina, T., Kornblum, C., Kraytsberg, Y., Elger, C. E., Khrapko, K., Kunz, W. S. (2007) Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis American Journal of Human Genetics . 80 (2): 298-305 .
17886296 Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F., Turnbull, D. M. (2007) Prevalence of mitochondrial DNA disease in adults Annals of Neurology . 63 (1): 35-39 .
17053148 Mahata, B., Mukherjee, S., Mishra, S., Bandyopadhyay, A., Adhya, S. (2006) Functional delivery of a cytosolic tRNA into mutant mitochondria of human cells Science . 314 (5798): 471-474 .
18674747 Elliott, H. R., Samuels, D. C., Eden, J. A., Relton, C. L., Chinnery, P. F. (2008) Pathogenic mitochondrial DNA mutations are common in the general population American Journal of Human Genetics . 83 (2): 254-260 .
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 .
16120315 Yasukawa, T., Suzuki, T., Ohta, S., Watanabe, K. (2002) Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations Mitochondrion . 2 (40545): 129-141 .
22411789 Wang, G., Shimada, E., Zhang, J., Hong, J. S., Smith, G. M., Teitell, M. A., Koehler, C. M. (2012) Correcting human mitochondrial mutations with targeted RNA import Proceedings of the National Academy of Sciences of the United States of America . 109 (13): 4850-4855 .
23390135 Monnot, S., Samuels, D. C., Hesters, L., Frydman, N., Gigarel, N., Burlet, P., Kerbrat, V., Lamazou, F., Frydman, R., Benachi, A., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Steffann, J. (2013) Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis Human Molecular Genetics . 22 (9): 1867-1872 .
23297368 Samuels, D. C., Wonnapinij, P., Chinnery, P. F. (2013) Preventing the transmission of pathogenic mitochondrial DNA mutations: can we achieve long-term benefits from germ-line gene transfer? Human Reproduction (Oxford, England) . 28 (3): 554-559 .
25192510 Haas, R. H., Zolkipli, Z. (2014) Mitochondrial disorders affecting the nervous system Seminars in Neurology . 32 (3): 321-340 .
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 .
26404827 Lightowlers, R. N., Taylor, R. W., Turnbull, D. M. (2015) Mutations causing mitochondrial disease: What is new and what challenges remain? Science . 349 (6255): 1494-1499 .
29253894 Wei, W., Gomez-Duran, A., Hudson, G., Chinnery, P. F. (2017) Background sequence characteristics influence the occurrence and severity of disease-causing mtDNA mutations PLoS Genetics . 13 (12): e1007126 .
30674338 Chang, J. C., Chang, H. S., Wu, Y. C., Cheng, W. L., Lin, T. T., Chang, H. J., Kuo, S. J., Chen, S. T., Liu, C. S. (2019) Mitochondrial transplantation regulates antitumour activity, chemoresistance and mitochondrial dynamics in breast cancer Journal of Experimental and Clinical Cancer Research . 38 (1): 30 .
NA Bolze, A., Mendez, F., White, S., Tanudjaja, F., Isaksson, M., Jiang, R., Dei Rossi, A., Cirulli, E. T., Rashkin, M., Metcalf, W. J., Grzymski, J. J., Lee, W., Lu, J. T. and Washington, N. L. (2020) A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans bioRxiv . ePub (https://www.biorxiv.org/content/10.1101/798264v3): 798264 .
31965079 Wong, L. C., Chen, T., Wang, J., Tang, S., Schmitt, E. S., Landsverk, M., Li, F., Wang, Y., Zhang, S., Zhang, V. W., Craigen, W. J. (2020) Interpretation of mitochondrial tRNA variants Genetics in Medicine 22 (5): 917-926; Suppl Table 1 .
34146515 Ng, Y. S., Bindoff, L. A., Gorman, G. S., Klopstock, T., Kornblum, C., Mancuso, M., McFarland, R., Sue, C. M., Suomalainen, A., Taylor, R. W., Thorburn, D. R., Turnbull, D. M. (2021) Mitochondrial disease in adults: recent advances and future promise [Review] Lancet Neurology . 20 (7): 573-584 .
12471464 Tanji, K., Gamez, J., Cervera, C., Mearin, F., Ortega, A., de la Torre, J., Montoya, J., Andreu, A. L., DiMauro, S., Bonilla, E. (2003) The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction Acta Neuropathologica . 105 (1): 69-75 .
12661941 Tsao, C. Y., Herman, G., Boue, D. R., Prior, T. W., Lo, W. D., Atkin, J. F., Rusin, J. (2003) Leigh disease with mitochondrial DNA A8344G mutation: case report and brief review Journal of Child Neurology . 18 (1): 62-64 .
12876264 Remes, A. M., Karppa, M., Moilanen, J. S., Rusanen, H., Hassinen, I. E., Majamaa, K., Uimonen, S., Sorri, M., Salmela, P. I., Karvonen, S. L. (2003) Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome Journal of Neurology, Neurosurgery and Psychiatry . 74 (8): 1158-1159 .
14639582 Arpa, J., Cruz-Martinez, A., Campos, Y., Gutierrez-Molina, M., Garcia-Rio, F., Perez-Conde, C., Martin, M. A., Rubio, J. C., Del Hoyo, P., Arpa-Fernandez, A., Arenas, J. (2003) Prevalence and progression of mitochondrial diseases: a study of 50 patients Muscle and Nerve . 28 (6): 690-695 .
14748908 Marotta, R., Chin, J., Quigley, A., Katsabanis, S., Kapsa, R., Byrne, E., Collins, S. (2004) Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001 Internal Medicine Journal . 34 (40545): 10-19 .
15893315 Yasukawa, T., Kirino, Y., Ishii, N., Holt, I. J., Jacobs, H. T., Makifuchi, T., Fukuhara, N., Ohta, S., Suzuki, T., Watanabe, K. (2005) Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases FEBS Letters . 579 (13): 2948-2952 .
15477393 Levinger, L., Morl, M., Florentz, C. (2004) Mitochondrial tRNA 3' end metabolism and human disease Nucleic Acids Research . 32 (18): 5430-5441 .
15100439 Sissler, M., Helm, M., Frugier, M., Giege, R., Florentz, C. (2004) Aminoacylation properties of pathology-related human mitochondrial tRNA(Lys) variants RNA . 10 (5): 841-853 .
10699170 Borner, G. V., Zeviani, M., Tiranti, V., Carrara, F., Hoffmann, S., Gerbitz, K. D., Lochmuller, H., Pongratz, D., Klopstock, T., Melberg, A., Holme, E., Paabo, S. (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients Human Molecular Genetics . 9 (4): 467-475 .
10942580 Cavelier, L., Johannisson, A., Gyllensten, U. (2000) Analysis of mtDNA copy number and composition of single mitochondrial particles using flow cytometry and PCR Experimental Cell Research . 259 (1): 79-85 .
17275787 Mancuso, M., Petrozzi, L., Filosto, M., Nesti, C., Rocchi, A., Choub, A., Pistolesi, S., Massetani, R., Fontanini, G., Siciliano, G. (2007) MERRF syndrome without ragged-red fibers: the need for molecular diagnosis Biochemical and Biophysical Research Communications . 354 (4): 1058-1560 .
17653689 Whittaker, R. G., Schaefer, A. M., McFarland, R., Taylor, R. W., Walker, M., Turnbull, D. M. (2007) Prevalence and progression of diabetes in mitochondrial disease Diabetologia . 50 (10): 2085-2089 .
7565871 Kadenbach, B., Munscher, C., Frank, V., Muller-Hocker, J., Napiwotzki, J. (1995) Human aging is associated with stochastic somatic mutations of mitochondrial DNA Mutation Research . 338 (40549): 161-172 .
7735877 Jackson, M. J., Schaefer, J. A., Johnson, M. A., Morris, A. A., Turnbull, D. M., Bindoff, L. A. (1995) Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients Brain . 118 (Pt 2): 339-57 .
17989367 Ito, S., Shirai, W., Asahina, M., Hattori, T. (2008) Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation AJNR American Journal of Neuroradiology . 29 (2): 392-395 .
15466086 Scaglia, F., Towbin, J. A., Craigen, W. J., Belmont, J. W., Smith, E. O., Neish, S. R., Ware, S. M., Hunter, J. V., Fernbach, S. D., Vladutiu, G. D., Wong, L. J., Vogel, H. (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease Pediatrics . 114 (4): 925-931 .
8809026 James, A. M., Wei, Y. H., Pang, C. Y., Murphy, M. P. (1996) Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations Biochemical Journal . 318 (Pt 2): 401-407 .
18319067 Fornuskova, D., Brantova, O., Tesarova, M., Stiburek, L., Honzik, T., Wenchich, L., Tietzeova, E., Hansikova, H., Zeman, J. (2008) The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues Biochimica et Biophysica Acta . 1782 (5): 317-325 .
18647627 Muravchick, S. (2008) Clinical implications of mitochondrial disease Advanced Drug Delivery Reviews . 60 (13-14): 1553-1560 .
19370763 Dobrowolski, S. F., Gray, J., Miller, T., Sears, M. (2009) Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling Human Mutation (Online) . 30 (6): 891-898 .
16326995 Bohm, M., Pronicka, E., Karczmarewicz, E., Pronicki, M., Piekutowska-Abramczuk, D., Sykut-Cegielska, J., Mierzewska, H., Hansikova, H., Vesela, K., Tesarova, M., Houstkova, H., Houstek, J., Zeman, J. (2006) Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency Pediatric Research . 59 (1): 21-26 .
19266142 Molnar, M. J., Perenyi, J., Siska, E., Nemeth, G., Nagy, Z. (2009) The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders Journal of Neurology . 256 (2): 264-265 .
19486129 Jeppesen, T. D., Duno, M., Schwartz, M., Krag, T., Rafiq, J., Wibrand, F., Vissing, J. (2009) Short- and long-term effects of endurance training in patients with mitochondrial myopathy European Journal of Neurology . 16 (12): 1336-1339 .
NA Wahbi, K., Larue, S., Jardel, C., Meune, C., Stojkovic, T., Ziegler, F., Lombes, A., Eymard, B., Duboc, D., Laforet, P. (2010) Cardiac involvement is frequent in patients with the m.8344A>G mutation of mitochondrial DNA Neurology . 74 (8): 674-677 .
10753928 Enriquez, J. A., Cabezas-Herrera, J., Bayona-Bafaluy, M. P., Attardi, G. (2000) Very rare complementation between mitochondria carrying different mitochondrial DNA mutations points to intrinsic genetic autonomy of the organelles in cultured human cells Journal of Biological Chemistry . 275 (15): 11207-11215 .
20064630 Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M., Tanaka, M. (2010) Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations [METHODS] Mitochondrion . 10 (3): 300-308 .
19941338 Wibrand, F., Jeppesen, T. D., Frederiksen, A. L., Olsen, D. B., Duno, M., Schwartz, M., Vissing, J. (2010) Limited diagnostic value of enzyme analysis in patients with mitochondrial tRNA mutations Muscle and Nerve . 41 (5): 607-613 .
20123042 Cao, Y., Ma, Y., Zhang, Y., Li, Y., Fang, F., Wang, S., Bu, D., Xu, Y., Pei, P., Li, L., Xiao, Y., Wu, H., Yang, Y., Zou, L., Qi, Y. (2010) Detection of eight frequently encountered point mutations in mitochondria in Chinese patients suggestive of mitochondrial encephalomyopathies Mitochondrion . 10 (4): 330-334 .
20581069 Biancheri, R., Rossi, D., Cassandrini, D., Rossi, A., Bruno, C., Santorelli, F. M. (2010) Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation AJNR. American Journal of Neuroradiology . 31 (9): E78-79 .
18848389 Perez, F., Anne, O., Debruxelles, S., Menegon, P., Lambrecq, V., Lacombe, D., Martin-Negrier, M. L., Brochet, B., Goizet, C. (2009) Leber's optic neuropathy associated with disseminated white matter disease: a case report and review Clinical Neurology and Neurosurgery . 111 (1): 83-86 .
21473984 Gigarel, N., Hesters, L., Samuels, D. C., Monnot, S., Burlet, P., Kerbrat, V., Lamazou, F., Benachi, A., Frydman, R., Feingold, J., Rotig, A., Munnich, A., Bonnefont, J. P., Frydman, N., Steffann, J. (2011) Poor correlations in the levels of pathogenic mitochondrial DNA mutations in polar bodies versus oocytes and blastomeres in humans American Journal of Human Genetics . 88 (4): 494-498 .
8559379 Howell, N., Kubacka, I., Smith, R., Frerman, F., Parks, J. K., Parker, W. D., Jr. (1996) Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease Neurology . 46 (1): 219-222 .
21935892 Yarham, J. W., Elson, J. L., Blakely, E. L., McFarland, R., Taylor, R. W. (2010) Mitochondrial tRNA mutations and disease Wiley Interdisciplinary Reviews. RNA . 1 (2): 304-324 .
19718780 Elson, J. L., Swalwell, H., Blakely, E. L., McFarland, R., Taylor, R. W., Turnbull, D. M. (2009) Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? Human Mutation . 30 (11): E984-992 .
22577219 Lax, N. Z., Pienaar, I. S., Reeve, A. K., Hepplewhite, P. D., Jaros, E., Taylor, R. W., Kalaria, R. N., Turnbull, D. M. (2012) Microangiopathy in the cerebellum of patients with mitochondrial DNA disease Brain . 135 (Pt 6): 1736-1750 .
22249460 Lax, N. Z., Hepplewhite, P. D., Reeve, A. K., Nesbitt, V., McFarland, R., Jaros, E., Taylor, R. W., Turnbull, D. M. (2012) Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study Journal of Neuropathology and Experimental Neurology . 71 (2): 148-161 .
23376095 Krag, T. O., Hauerslev, S., Jeppesen, T. D., Duno, M., Vissing, J. (2013) Muscle regeneration in mitochondrial myopathies Mitochondrion . 13 (2): 63-70 .
23838278 Jeppesen, T. D., Orngreen, M. C., Van Hall, G., Vissing, J. (2013) Lactate metabolism during exercise in patients with mitochondrial myopathy Neuromuscular Disorders . 23 (8): 629-636 .
10716764 Munoz-Malaga, A., Bautista, J., Salazar, J. A., Aguilera, I., Garcia, R., Chinchon, I., Segura, M. D., Campos, Y., Arenas, J. (2000) Lipomatosis, proximal myopathy, and the mitochondrial 8344 mutation. A lipid storage myopathy? Muscle and Nerve . 23 (4): 538-542 .
24642831 Nesbitt, V., Alston, C. L., Blakely, E. L., Fratter, C., Feeney, C. L., Poulton, J., Brown, G. K., Turnbull, D. M., Taylor, R. W., McFarland, R. (2014) A national perspective on prenatal testing for mitochondrial disease European Journal of Human Genetics . 22 (11): 1255-1259 .
22781547 Yarham, J. W., McFarland, R., Taylor, R. W., Elson, J. L. (2012) A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations Mitochondrion . 12 (5): 533-538 .
29288969 Wu, Y. T., Hsu, Y. H., Huang, C. Y., Ho, M. C., Cheng, Y. C., Wen, C. H., Ko, H. W., Lu, H. E., Chen, Y. C., Tsai, C. L., Hsu, Y. C., Wei, Y. H., Hsieh, P. C. H. (2018) Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome Stem Cell Research . 27 (): 10-14 .
29139113 Kraya, T., Deschauer, M., Joshi, P. R., Zierz, S., Gaul, C. (2018) Prevalence of headache in patients with mitochondrial disease: a cross-sectional study Headache . 58 (1): 45-52. Erratum: Headache 58(2): 358 .
23006856 Chang, J. C., Liu, K. H., Li, Y. C., Kou, S. J., Wei, Y. H., Chuang, C. S., Hsieh, M., Liu, C. S. (2013) Functional recovery of human cells harbouring the mitochondrial DNA mutation MERRF A8344G via peptide-mediated mitochondrial delivery Neurosignals . 21 (3-4): 160-173 .
29390138 Asano, K., Suzuki, T., Saito, A., Wei, F. Y., Ikeuchi, Y., Numata, T., Tanaka, R., Yamane, Y., Yamamoto, T., Goto, T., Kishita, Y., Murayama, K., Ohtake, A., Okazaki, Y., Tomizawa, K., Sakaguchi, Y., Suzuki, T. (2018) Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease Nucleic Acids Research . 46 (4): 1565-1583 .
30146801 Su, T., Grady, J. P., Afshar, S., McDonald, S. A., Taylor, R. W., Turnbull, D. M., Greaves, L. C. (2018) Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations The Journal of Pathology . 246 (4): 427-432 .
31178486 Miyaue, N., Yamanishi, Y., Tada, S., Ando, R., Nagai, M., Nomoto, M. (2019) Phenotypic diversity of myoclonus epilepsy associated with ragged-red ribers with an 8344A>G mtDNA mutation Internal Medicine . 58 (18): 2753 .
31178476 Finsterer, J. (2019) Exercise-induced falls Attributed to the variant m.8344A>G Internal Medicine . 58 (18): 2751 .
29650490 Dulovic, M., Schaffer, E., Leypoldt, F., Balck, A., Schaake, S., Hinrichs, F., Kirchner, H., Bruggemann, N., Berg, D., Lohmann, K. (2018) A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members Parkinsonism and Related Disorders . 54 (): 116-118 .
31345444 Nikolaus, M., Tietze, A., Schweizer, L., Kaindl, A. M., Stenzel, W., Schuelke, M., Knierim, E. (2019) Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease Brain and Development . 41 (10): 901-904 .
17323145 Zhang, Y., Yang, Y. L., Sun, F., Cai, X., Qian, N., Yuan, Y., Wang, Z. X., Qi, Y., Xiao, J. X., Wang, X. Y., Zhang, Y. H., Jiang, Y. W., Qin, J., Wu, X. R. (2007) Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome Journal of Inherited Metabolic Disease . 30 (2): 265 .
24961732 Han, J. Y., Sung, J. J., Park, H. K., Yoon, B. N., Lee, K. W. (2014) Adult onset Leigh syndrome with mitochondrial DNA 8344 A>G mutation Journal of Clinical Neuroscience . 21 (11): 2009-2011 .
28754700 Vachin, P., Adda-Herzog, E., Chalouhi, G., Elie, C., Rio, M., Rondeau, S., Gigarel, N., Jabot Hanin, F., Monnot, S., Borghese, R., Bengoa, J., Ville, Y., Rotig, A., Munnich, A., Bonnefont, J. P., Steffann, J. (2018) Segregation of mitochondrial DNA mutations in the human placenta: implication for prenatal diagnosis of mtDNA disorders Journal of Medical Genetics . 55 (2): 131-136 .
30797798 Villanueva-Paz, M., Povea-Cabello, S., Villalon-Garcia, I., Suarez-Rivero, J. M., Alvarez-Cordoba, M., de la Mata, M., Talaveron-Rey, M., Jackson, S., Sanchez-Alcazar, J. A. (2019) Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming Biochimica et Biophysica Acta. Molecular Cell Research . 1866 (5): 861-881 .
22538251 Zheng, J., Ji, Y., Guan, M. X. (2012) Mitochondrial tRNA mutations associated with deafness Mitochondrion . 12 (3): 406-413 .
25559684 Catteruccia, M., Sauchelli, D., Della Marca, G., Primiano, G., Cuccagna, C., Bernardo, D., Leo, M., Camporeale, A., Sanna, T., Cianfoni, A., Servidei, S. (2015) Myo-cardiomyopathy is commonly associated with the A8344G "MERRF" mutation Journal of Neurology . 262 (3): 701-710 .
32504279 Formichi, P., Cardone, N., Taglia, I., Cardaioli, E., Salvatore, S., Gerfo, A. L., Simoncini, C., Montano, V., Siciliano, G., Mancuso, M., Malandrini, A., Federico, A., Dotti, M. T. (2020) Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions Neurological Sciences . 41 (12): 3653-3662 .