MITOMAP References for Variant A3243G at 3243

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8363469 Chang, T.S., Johns, D.R., Walker, D., de la Cruz, Z., Maumence, I.H., Green, W.R. (1993) Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes Archives of Ophthalmology . 111 (9): 1254-1262 .
8356881 Chen, R. S., Huang, C. C., Lee, C. C., Wai, Y. Y., Hsi, M. S., Pang, C. Y., Wei, Y. H. (1993) Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies Acta Neurologica Scandinavica . 87 (6): 494-498 .
1584755 Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S.T., Nonaka, I., Angelini, C., Attardi, G. (1992) 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 Proceedings of the National Academy of Sciences of the United States of America . 89 (10): 4221-4225 .
1922812 Ciafaloni, E., Ricci, E., Servidei, S., Shanske, S., Silvestri, G., Manfredi, G., Schon, E. A., DiMauro, S. (1991) Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome Neurology . 41 (10): 1663-1665 .
1586140 Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C.T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C., Donati, M.A., Garcia, C., Martinuzzi, A., Moxewich, R., Servidei, S., Zammarchi, E., Bonilla, E., Rowland, L.P., Schon, E.A., DiMauro, S. (1992) MELAS: clinical features, biochemistry, and molecular genetics Annals of Neurology . 31 (4): 391-398 .
8122891 Degoul, F., Diry, M., Pou-Serradell, A., Lloreta, J., Marsac, C. (1994) Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation Annals of Neurology . 35 (3): 365-370 .
7965431 Dougherty, F.E., Ernst, S.G., Aprille, J.R. (1994) Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) Journal of Pediatrics . 125 (5 Pt 1): 758-761 .
1684568 Enter, C., Muller-Hocker, J., Zierz, S., Kurlemann, G., Pongratz, D., Forster, C., Obermaier-Kusser, B., Gerbitz, K. D. (1991) A specific point mutation in the mitochondrial genome of Caucasians with MELAS Human Genetics . 88 (2): 233-266 .
8363452 Fang, W., Huang, C.C., Lee, C.C., Cheng, S.Y., Pang, C.Y., Wei, Y.H. (1993) Ophthalmologic manifestations in MELAS syndrome Archives of Neurology . 50 (9): 977-980 .
8477849 Gerbitz, K.D., Paprotta, A., Jaksch, M., Zierz, S., Drechsel, J. (1993) Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene FEBS Letters . 321 (40577): 194-196 .
1549215 Goto, Y., Horai, S., Matsuoka, T., Koga, Y., Nihei, K., Kobayashi, M., Nonaka, I. (1992) Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation Neurology . 42 (3 Pt 1): 545-550 .
2102678 Goto, Y., Nonaka, I., Horai, S. (1990) A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies Nature . 348 (6302): 651-653 .
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 .
1755869 Hess, J. F., Parisi, M. A., Bennett, J. L., Clayton, D. A. (1991) Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies Nature . 351 (6323): 236-239 .
8201329 Huang, C. C., Chen, R.S., Chen, C.M., Wang, H.S., Lee, C.C., Pang, C.Y., Hsu, H.S., Lee, H.C., Wei, Y.H. (1994) MELAS syndrome with mitochondrial tRNALeu(UUR) gene mutation in a Chinese family Journal of Neurology, Neurosurgery and Psychiatry . 57 (5): 586-589 .
1670860 Ino, H., Tanaka, M., Ohno, K., Hattori, K., Ikebe, S., Sano, T., Ozawa, T., Ichiki, T., Kobayashi, M., Wada, Y. (1990) Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy Lancet . 337 (8735): 234-235 .
1370535 Inui, K., Fukushima, H., Tsukamoto, H., Taniike, M., Midorikawa, M., Tanaka, J., Nishigaki, T., Okada, S. (1992) Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNALeu(UUR) gene Journal of Pediatrics . 120 (1): 62-66 .
1405464 Inui, K., Tsukamoto, H., Fukushima, H., Taniike, M., Tanaka, J., Nishigaki, T., Okada, S. (1992) Detection of the A to G (3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalmyopathies Journal of Inherited Metabolic Disease . 15 (3): 311-314 .
1433821 Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S., Ozawa, T. (1992) Mitochondrial DNA mutations in cardiomyopathy Japanese Circulation Journal . 56 (10): 1045-1053 .
8042948 Jean-Francois, M. J., Lertrit, P., Berkovic, S. F., Crimmins, D., Morris, J., Marzuki, S., Byrne, E. (1994) Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies Australian and New Zealand Journal of Medicine . 24 (2): 188-193 .
1673015 Johns, D. R., Hurko, O. (1991) Mitochondrial leucine tRNA mutation in neurological diseases Lancet . 337 (8746): 927-928 .
8122892 Kawakami, Y., Sakuta, R., Hashimoto, K., Fujino, O., Fujita, T., Hida, M., Horai, S., Goto, Y., Nonaka, I. (1994) Mitochondrial myopathy with progressive decrease in mitochondrial tRNALeu(UUR) mutant genomes Annals of Neurology . 35 (3): 370-373 .
1732728 King, M. P., Koga, Y., Davidson, M., Schon, E. A. (1992) Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Molecular and Cellular Biology . 12 (2): 480-490 .
1434521 Kobayashi, Y., Ichihashi, K., Ohta, S., Nihei, K., Kagawa, Y., Yanagisawa, M., Momoi, M.Y. (1992) The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations Journal of Inherited Metabolic Disease . 15 (5): 803-808 .
2268345 Kobayashi, Y., Momoi, M. Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y., Ohta, S. (1990) A point mutation in the mitochondrial tRNALeu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) Biochemical and Biophysical Research Communications . 173 (3): 816-822 .
1715668 Kobayashi, Y., Momoi, M. Y., Tominaga, K., Shimoizumi, H., Nihei, K., Yanagisawa, M., Kagawa, Y., Ohta, S. (1991) Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNALeu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) American Journal of Human Genetics . 49 (3): 590-599 .
7680123 Koga, Y., Davidson, M., Schon, E.A., King, M.P. (1993) Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS Nucleic Acids Research . 21 (3): 657-662 .
8326463 Love, S., Nicoll, J.A.R., Kinrade, E. (1993) Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS Journal of Pathology . 170 (1): 9-14 .
1463007 Mackey, D., Howell, N. (1992) A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology American Journal of Human Genetics . 51 (6): 1218-1228 .
8151636 Matthews, P.M., Hopkin, J., Brown, R.M., Stephenson, J.B., Hilton-Jones, D., Brown, G.K. (1994) Comparison of the relative levels of the 3243 (A-G) mtDNA mutation in heteroplasmic adult and fetal tissues Journal of Medical Genetics . 31 (1): 41-44 .
1434520 Miyabayashi, S., Hanamizu, H., Nakamura, R., Endo, H., Tada, K. (1992) Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts Journal of Inherited Metabolic Disease . 15 (5): 797-802 .
1315123 Moraes, C.T., Ricci, E., Bonilla, E., DiMauro, S., Schon, E.A. (1992) The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle American Journal of Human Genetics . 50 (5): 934-949 .
8442706 Mosewich, R. K., Donat, J. R., DiMauro, S., Ciafaloni, E., Shanske, S., Erasmus, M., George, D. (1993) The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke Archives of Neurology . 50 (3): 275-278 .
8129854 Munscher, C., Muller-Hocker, J., Kadenbach, B. (1993) Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA Biological Chemistry Hoppe Seyler . 374 (12): 1099-1104 .
1442494 Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., Ozawa, T. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy American Heart Journal . 124 (5): 1263-1269 .
1713858 Obermaier-Kusser, B., Paetzke-Brunner, I., Enter, C., Muller-Hocker, J., Zierz, S., Ruitenbeek, W., Gerbitz, K.-D. (1991) Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome (tRNALeu(UUR)) FEBS Letters . 286 (40545): 67-70 .
1436526 Penn, A.M.W., Lee, J.W.K., Thuillier, P., Wagner, M., Maclure, K.M., Menard, M.R., Hall, L.D., Kennaway, N.G. (1992) MELAS syndrome with mitochondrial tRNALeu(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin Neurology . 42 (11): 2147-2152 .
7912129 Petruzzella, V., Moraes, C.T., Sano, M.C., Bonilla, E., DiMauro, S., Schon, E.A. (1994) Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243 Human Molecular Genetics . 3 (3): 449-454 .
7689068 Poulton, J. (1993) Mitochondrial DNA and genetic disease Developmental Medicine and Child Neurology (London) . 35 (9): 833-840 .
2903249 Poulton, J., Turnbull, D. M., Mehta, A. B., Wilson, J., Gardiner, R. M. (1988) Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy Journal of Medical Genetics . 25 (9): 600-605 .
8482977 Sakuta, R., Goto, Y., Horai, S., Nonaka, I. (1993) Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study Journal of the Neurological Sciences . 115 (2): 158-160 .
1539604 Sato, W., Hayasaka, K., Komatsu, K., Sawaishi, Y., Sakemi, K., Shoji, Y., Takada, G. (1992) Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) American Journal of Human Genetics . 50 (3): 655-657 .
1378759 Schon, E.A., Koga, Y., Davidson, M., Moraes, C.T., King, M.P. (1992) The mitochondrial tRNALeu(UUR) mutation in MELAS: a model for pathogenesis Biochimica et Biophysica Acta . 1101 (2): 206-209 .
8138807 Shiraiwa, N., Ishii, A., Iwamoto, H., Mizusawa, H., Kagawa, Y., Ohta, S. (1993) Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies Journal of the Neurological Sciences . 120 (2): 174-179 .
8487499 Shoji, Y., Sato, W., Hayasaka, K., Takada, G. (1993) Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) Journal of Inherited Metabolic Disease . 16 (1): 27-30 .
8518790 Suomalainen, A., Majander, A., Pihko, H., Peltonen, L., Syvanen, A.C. (1993) Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription Human Molecular Genetics . 2 (-): 525-534 .
1899574 Tanaka, M., Ino, H., Ohno, K., Ohbayashi, T., Ikebe, S., Sano, T., Ichiki, T., Kobayashi, M., Wada, Y., Ozawa, T. (1991) Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Biochemical and Biophysical Research Communications . 174 (2): 861-868 .
7684581 Tokunaga, M., Mita, S., Sakuta, R., Nonaka, I., Araki, S. (1993) Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Annals of Neurology . 33 (3): 275-280 .
8154867 Tokunaga, M., Mita, S., Murakami, T., Kumamoto, T., Uchino, M., Nonaka, I.,o, M. (1994) Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) Annals of Neurology . 35 (4): 413-419 .
7910800 van den Ouweland, J. M., Lemkes, H. H., Trembath, R. C., Ross, R., Velho, G., Cohen, D., Froguel, P., Maassen, J. A. (1994) Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNALeu(UUR) gene Diabetes . 43 (6): 746-751 .
1284550 van den Ouweland, J. M., Lemkes, H. H. P., Ruitenbeek, W., Sandkjujl, L. A., deVijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P., Maassen, J. A. (1992) Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness Nature Genetics . 1 (5): 368-371 .
8373389 Zhang, C., Linnane, A.W., Nagley, P. (1993) Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of ageing humans Biochemical and Biophysical Research Communications . 195 (2): 1104-1110 .
8063037 Alcolado, J. C., Majid, A., Brockington, M., Sweeney, M. G., Morgan, R., Rees, A., Harding, A. E., Barnett, A. H. (1994) Mitochondrial gene defects in patients with NIDDM Diabetologia . 37 (4): 372-376 .
7743754 Alcolado, J. C., Thomas, A. W. (1995) Maternally inherited diabetes mellitus: the role of mitochondrial DNA defects Diabetic Medicine . 12 (2): 102-108 .
7732778 Campos, Y., Bautista, J., Gutierrez-Rivas, E., Chinchon, D., Cabello, A., Segura, D., Arenas, J. (1995) Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA Acta Neurologica Scandinavica . 91 (1): 62-65 .
7599217 Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review Biochimica et Biophysica Acta . 1271 (1): 253-260 .
7600089 Hammans, S. R., Sweeney, M. G., Hanna, M. G., Brockington, M., Morgan-Hughes, J. A., Harding, A. E. (1995) The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study Brain . 118 (Pt 3): 721-734 .
7603515 Kadowaki, T., Sakura, H., Otabe, S., Yasuda, K., Kadowaki, H., Mori, Y., Hagura, R., Akanuma, Y., Yazaki, Y. (1995) A subtype of diabetes mellitus associated with a mutation in the mitochondrial gene Muscle and Nerve . 3 (41): S137-S141 .
7473662 Manouvrier, S., Rotig, A., Hannebique, G., Gheerbrandt, J. D., Royer-Legrain, G., Munnich, A., Parent, M., Grunfeld, J. P., Largilliere, C., Lombes, A., Bonnefont, J. P. (1995) Point mutation of the mitochondrial tRNALeu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness Journal of Medical Genetics . 32 (8): 654-656 .
7639309 Massin, P., Guillausseau, P. J., Vialettes, B., Paquis, V., Orsini, F., Grimaldi, A. D., Gaudric, A. (1995) Macular pattern dystrophy associated with a mutation of mitochondrial DNA American Journal of Ophthalmology . 120 (2): 247-248 .
8392410 Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E., DiMauro, S. (1993) Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA Neuromuscular Disorders . 3 (1): 43-50 .
7599199 Morgan-Hughes, J.A., Sweeney, M.G., Cooper, J.M., Hammans, S.R., Brockington, M., Schapira, A.H., Harding, A.E., Clark, J.B. (1995) Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype Biochimica et Biophysica Acta . 1271 (1): 135-140 .
7625445 Sepehrnia, B., Prezant, T.R., Rotter, J.I., Pettitt, D.J., Knowler, W.C., Fischel-Ghodsian, N. (1995) Screening for mtDNA diabetes mutations in Pima Indians with NIDDM American Journal of Medical Genetics . 56 (2): 198-202 .
7603513 van den Ouweland, J.M., Lemkes, H.H., Gerbitz, K.D., Maassen, J.A. (1995) Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNALeu(UUR) gene point mutation Muscle and Nerve . 3 (30): S124-130 .
8773598 Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M.P., Schon, E.A. (1996) Mitochondrial DNA and RNA processing in MELAS Annals of Neurology . 40 (2): 172-180 .
8723687 Jaksch, M., Hofmann, S., Kaufhold, P., Obermaier-Kusser, B., Zierz, S., Gerbitz, K. D. (1996) A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus Human Mutation . 7 (4): 358-360 .
8723071 Damian, M.S., Seibel, P., Schachenmayr, W., Reichmann, H., Dorndorf, W. (1996) VACTERL with the mitochondrial np 3243 point mutation American Journal of Medical Genetics . 62 (4): 398-403 .
9455929 Smith, P.R., Dronsfield, M.J., Mijovic, C.H., Hattersley, A.T., Yeung, V.T., Cockram, C., Chan, J.C., Barnett, A.H., Bain, S.C. (1997) The mitochondrial tRNA[Leu(UUR)] A to G 3243 mutation is associated with insulin-dependent and non-insulin-dependent diabetes in a Chinese population Diabetic Medicine . 14 (12): 1026-1031 .
9761239 Urata, M., Wakiyama, M., Iwase, M., Yoneda, M., Kinoshita, S., Hamasaki, N., Kang, D. (1998) New sensitive method for the detection of the A3243G mutation of human mitochondrial deoxyribonucleic acid in diabetes mellitus patients by ligation-mediated polymerase chain reaction Clinical Chemistry . 44 (10): 2088-2093 .
9748738 Stratilova, L., Zeman, J., Hansikova, H., Houstek, J., Hermanska, J., Dudkova, Z., Konradova, V., Hulkova, H., Elleder, M. (1998) [Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA] Casopis Lekaru Ceskych . 137 (14): 430-433 .
9266470 Arai, M., Ohshima, S. (1997) Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation Journal of Neurology . 244 (7): 468-469 .
9196933 Bonte, C.A., Matthijs, G.L., Cassiman, J.J., Leys, A.M. (1997) Macular pattern dystrophy in patients with deafness and diabetes Retina . 17 (3): 216-221 .
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 .
9537417 El Meziane, A., Lehtinen, S.K., Hance, N., Nijtmans, L.G., Dunbar, D., Holt, I.J., Jacobs, H.T. (1998) A tRNA suppressor mutation in human mitochondria Nature Genetics . 18 (4): 350-353 .
9341162 Flierl, A., Reichmann, H., Seibel, P. (1997) Pathophysiology of the MELAS 3243 transition mutation Journal of Biological Chemistry . 272 (43): 27189-27196 .
9225833 Fukui, M., Nakano, K., Obayashi, H., Kitagawa, Y., Nakamura, N., Mori, H., Kajiyama, S., Wada, S., Fujii, M., Yoshimori, K., Kanaitsuka, T., Shigeta, H., Kondo, M. (1997) High prevalence of mitochondrial diabetes mellitus in Japanese patients with major risk factors Metabolism: Clinical and Experimental . 46 (7): 793-795 .
9353631 Fukunaga, Y., Azuma, N., Koshiyama, H., Inoue, D., Sato, H., Yoshimasa, Y., Nakao, K. (1997) Mitochondrial DNA 3243 mutation is infrequent in Japanese diabetic patients with auditory disturbance Diabetes Care . 20 (11): 1800-1803 .
9262546 Harrison, T.J., Boles, R.G., Johnson, D.R., LeBlond, C., Wong, L.J. (1997) Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy American Journal of Ophthalmology . 124 (2): 217-221 .
9386859 Inagaki, T., Ishino, H., Seno, H., Ohguni, S., Tanaka, J., Kato, Y. (1997) Psychiatric symptoms in a patient with diabetes mellitus associated with point mutation in mitochondrial DNA Biological Psychiatry . 42 (11): 1067-1069 .
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 .
9219161 Jansen, J.J., Maassen, J.A., van der Woude, F.J., Lemmink, H.A., van den Ouweland, J.M., tHart, L.M., Smeets, H.J., Bruijn, J.A., Lemkes, H.H. (1997) Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease Journal of the American Society of Nephrology . 8 (7): 1118-1124 .
9024220 Lee, H.C., Song, Y.D., Li, H.R., Park, J.O., Suh, H.C., Lee, E., Lim, S., Kim, K., Huh, K. (1997) Mitochondrial gene transfer ribonucleic acid (tRNA)Leu(UUR) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea Journal of Clinical Endocrinology and Metabolism . 82 (2): 372-374 .
9105898 Maassen, J.A., van den Ouweland, J.M., tHart, L.M., Lemkes, H.H. (1997) Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA Hormone and Metabolic Research . 29 (2): 50-55 .
9212310 Newkirk, J.E., Taylor, R.W., Howell, N., Bindoff, L.A., Chinnery, P.F., Alberti, K.G., Turnbull, D.M., Walker, M. (1997) Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population Diabetic Medicine . 14 (6): 457-460 .
9633820 Olsson, C., Zethelius, B., Lagerstrom-Fermer, M., Asplund, J., Berne, C., Landegren, U. (1998) Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness Human Mutation . 12 (1): 52-58 .
9146825 Onishi, H., Kawanishi, C., Iwasawa, T., Osaka, H., Hanihara, T., Inoue, K., Yamada, Y., Kosaka, K. (1997) Depressive disorder due to mitochondrial transfer RNALeu(UUR) mutation Biological Psychiatry . 41 (11): 1137-1139 .
9541116 Onishi, H., Hanihara, T., Sugiyama, N., Kawanishi, C., Iseki, E., Maruyama, Y., Yamada, Y., Kosaka, K., Yagishita, S., Sekihara, H., Satoh, S. (1998) Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation Journal of Medical Genetics . 35 (3): 255-257 .
9149827 Sawada, S., Takeda, T., Kakigi, A., Saito, H., Suehiro, T., Nakauchi, Y., Chikamori, K. (1997) Audiological findings of sensorineural deafness associated with a mutation in the mitochondrial DNA American Journal of Otology . 18 (3): 332-335 .
9625453 Shin, C.S., Kim, S.K., Park, K.S., Kim, W.B., Kim, S.Y., Cho, B.Y., Lee, H.K., Koh, C.S., Shin, C.H., Lee, J.B. (1998) A new point mutation (3426, A to G) in mitochondrial NADH dehydrogenase gene in Korean diabetic patients which mimics 3243 mutation by restriction fragment length polymorphism pattern Endocrine Journal . 45 (1): 105-110 .
9437322 Souied, E.H., Sales, M.J., Soubrane, G., Coscas, G., Bigorie, B., Kaplan, J., Munnich, A., Rotig, A. (1998) Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion American Journal of Ophthalmology . 125 (1): 100-103 .
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 .
9073028 Suzuki, Y., Goto, Y., Taniyama, M., Nonaka, I., Murakami, N., Hosokawa, K., Asahina, T., Atsumi, Y., Matsuoka, K. (1997) Muscle histopathology in diabetes mellitus associated with mitochondrial tRNA(Leu(UUR)) mutation at position 3243 Journal of the Neurological Sciences . 145 (1): 49-53 .
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