메뉴 건너뛰기




Volumn 106, Issue 6, 1999, Pages 1101-1108

Pigmentary retinal dystrophy and the syndrome of maternally inherited diabetes and deafness caused by the mitochondrial DNA 3243 tRNA(Leu) A to G mutation

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

EID: 0033503921     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(99)90244-0     Document Type: Article
Times cited : (76)

References (30)
  • 1
    • 0019423856 scopus 로고
    • Sequence and organization of the human mitochondrial genome
    • Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-65.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 2
    • 84924635809 scopus 로고
    • Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Unusual syndrome with histologic study in one of two cases
    • Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Unusual syndrome with histologic study in one of two cases. Arch Ophthalmol 1958; 60:280-9.
    • (1958) Arch Ophthalmol , vol.60 , pp. 280-289
    • Kearns, T.P.1    Sayre, G.P.2
  • 3
    • 85031646987 scopus 로고
    • Pigmentary retinopathies
    • Dodson PM, Gibson JM, Kritzinger EE, eds. London: Chapman & Hall, chapter 13
    • Dodson PM, Gibson JM. Pigmentary retinopathies. In: Dodson PM, Gibson JM, Kritzinger EE, eds. Clinical Retinopathies. London: Chapman & Hall, 1995, chapter 13 pp. 162-4.
    • (1995) Clinical Retinopathies , pp. 162-164
    • Dodson, P.M.1    Gibson, J.M.2
  • 4
    • 0026681490 scopus 로고
    • MELAS: Clinical features, biochemistry, and molecular genetics
    • Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol 1992;31:391-8.
    • (1992) Ann Neurol , vol.31 , pp. 391-398
    • Ciafaloni, E.1    Ricci, E.2    Shanske, S.3
  • 5
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-9.
    • (1988) Nature , vol.331 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 6
    • 0025666322 scopus 로고
    • A mutation in the tRNA Leu(uuR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Hora S. A mutation in the tRNA Leu(uuR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990;348:651-3.
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Hora, S.3
  • 7
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
    • (1988) Science , vol.242 , pp. 1427-1430
    • Wallace, D.C.1    Singh, G.2    Lott, M.T.3
  • 8
    • 0026849690 scopus 로고
    • Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
    • Ballinger SW, Shoffner JM, Hedaya EV, et al. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet 1992;1:11-5.
    • (1992) Nat Genet , vol.1 , pp. 11-15
    • Ballinger, S.W.1    Shoffner, J.M.2    Hedaya, E.V.3
  • 9
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNA Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • van den Ouweland JW, Lemkes HH, PJ, Ruitenbeek W, et al. Mutation in mitochondrial tRNA Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992;1:368-71.
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.W.1    Lemkes, H.H.2    J., P.3    Ruitenbeek, W.4
  • 10
    • 0026462744 scopus 로고
    • Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
    • Reardon W, Ross RJ, Sweeney MG, et al. Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 1992;340:1376-9.
    • (1992) Lancet , vol.340 , pp. 1376-1379
    • Reardon, W.1    Ross, R.J.2    Sweeney, M.G.3
  • 11
    • 0027131293 scopus 로고
    • Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation
    • Rummelt V, Folberg R, Ionasescu V, et al. Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. Ophthalmology 1993;100:1757-66.
    • (1993) Ophthalmology , vol.100 , pp. 1757-1766
    • Rummelt, V.1    Folberg, R.2    Ionasescu, V.3
  • 12
    • 0021449829 scopus 로고
    • The negative coincidence of retinitis pigmentosa and proliferative diabetic retinopathy
    • Sternberg P Jr, Landers MB III, Wolbarsht M. The negative coincidence of retinitis pigmentosa and proliferative diabetic retinopathy. Am J Ophthalmol 1984;97:788-9.
    • (1984) Am J Ophthalmol , vol.97 , pp. 788-789
    • Sternberg Jr., P.1    Landers III, M.B.2    Wolbarsht, M.3
  • 13
    • 0003512785 scopus 로고
    • Diabetes Mellitus: Report of a WHO Study Group
    • Geneva: World Health Organization. Albany, NY: WHO Publications Centre USA [distributor]
    • WHO Study Group on Diabetes Mellitus. Diabetes Mellitus: Report of a WHO Study Group. Geneva: World Health Organization. Albany, NY: WHO Publications Centre USA [distributor], 1985 (World Health Organization technical report series; 727).
    • (1985) World Health Organization Technical Report Series , pp. 727
  • 14
    • 0028593949 scopus 로고
    • Extraction of high quality genomic DNA from microsamples of human blood
    • Ma HW, Cheng J, Caddy B. Extraction of high quality genomic DNA from microsamples of human blood. J Forensic Sci Soc 1994;34:231-5.
    • (1994) J Forensic Sci Soc , vol.34 , pp. 231-235
    • Ma, H.W.1    Cheng, J.2    Caddy, B.3
  • 15
    • 0024393212 scopus 로고
    • Standard for clinical electroretinography
    • International Standardization Committee. Standard for clinical electroretinography. Arch Ophthalmol 1989;107:816-9.
    • (1989) Arch Ophthalmol , vol.107 , pp. 816-819
  • 16
    • 0029129204 scopus 로고
    • Macular pattern dystrophy associated with a mutation of mitochondrial DNA
    • Massin P, Guillausseau PJ, Vialettes B, et al. Macular pattern dystrophy associated with a mutation of mitochondrial DNA. Am J Ophthalmol 1995;120:247-8.
    • (1995) Am J Ophthalmol , vol.120 , pp. 247-248
    • Massin, P.1    Guillausseau, P.J.2    Vialettes, B.3
  • 17
    • 0029045820 scopus 로고
    • Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNA Leu(UUR) gene
    • Vialettes B, Paquis-Fluckinger V, Silvestre-Aillaud P, et al. Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNA Leu(UUR) gene. Diabetes Care 1995;18:1023-8.
    • (1995) Diabetes Care , vol.18 , pp. 1023-1028
    • Vialettes, B.1    Paquis-Fluckinger, V.2    Silvestre-Aillaud, P.3
  • 18
    • 0006416465 scopus 로고
    • Visual electrodiagnostic testing: A practical guide for the clinician
    • Baltimore: Williams & Wilkins
    • Carr RE, Siegel IM. Visual electrodiagnostic testing: a practical guide for the clinician. Baltimore: Williams & Wilkins, 1982. (Handbooks in ophthalmology).
    • (1982) Handbooks in Ophthalmology
    • Carr, R.E.1    Siegel, I.M.2
  • 19
    • 0022344135 scopus 로고
    • The retinal manifestations of mitochondrial myopathy. A study of 22 cases
    • Mullie MA, Harding AE, Petty RKH, et al. The retinal manifestations of mitochondrial myopathy. A study of 22 cases. Arch Ophthalmol 1985;103:1825-30.
    • (1985) Arch Ophthalmol , vol.103 , pp. 1825-1830
    • Mullie, M.A.1    Harding, A.E.2    Petty, R.K.H.3
  • 20
    • 0021837764 scopus 로고
    • Retinal pathology in the Kearns-Sayre syndrome
    • McKechnie NM, King M, Lee WR. Retinal pathology in the Kearns-Sayre syndrome. Br J Ophthalmol 1985;69:63-75.
    • (1985) Br J Ophthalmol , vol.69 , pp. 63-75
    • McKechnie, N.M.1    King, M.2    Lee, W.R.3
  • 21
    • 0029077496 scopus 로고
    • The mitochondrial DNA transfer RNA Leu(UUR) A→G(3243) mutation. A clinical and genetic study
    • Hammans SR, Sweeney MG, Hanna MG, et al. The mitochondrial DNA transfer RNA Leu(UUR) A→G(3243) mutation. A clinical and genetic study. Brain 1995;118:721-34.
    • (1995) Brain , vol.118 , pp. 721-734
    • Hammans, S.R.1    Sweeney, M.G.2    Hanna, M.G.3
  • 22
    • 0026608057 scopus 로고
    • 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
    • Chomyn A, Martinuzzi A, Yoneda M, et al. 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. Proc Natl Acad Sci USA 1992;89:4221-5.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 4221-4225
    • Chomyn, A.1    Martinuzzi, A.2    Yoneda, M.3
  • 23
    • 0026752276 scopus 로고
    • The mitochondrial tRNA Leu(UUR) mutation in MELAS: A model for pathogenesis
    • Schon EA, Koga Y, Davidson M, et al. The mitochondrial tRNA Leu(UUR) mutation in MELAS: a model for pathogenesis. Biochim Biophys Acta 1992;1101:206-9.
    • (1992) Biochim Biophys Acta , vol.1101 , pp. 206-209
    • Schon, E.A.1    Koga, Y.2    Davidson, M.3
  • 24
    • 0020369851 scopus 로고
    • The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study
    • Eagle RC Jr, Hedges TR, Yanoff M. The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. Ophthalmology 1982;89:1433-40.
    • (1982) Ophthalmology , vol.89 , pp. 1433-1440
    • Eagle Jr., R.C.1    Hedges, T.R.2    Yanoff, M.3
  • 25
    • 0026624980 scopus 로고
    • Diseases of the mitochondrial DNA
    • Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992;61:1175-212.
    • (1992) Annu Rev Biochem , vol.61 , pp. 1175-1212
    • Wallace, D.C.1
  • 26
    • 0023549671 scopus 로고
    • Monitoring communications between photoreceptors and pigment epithelial cells: Effects of "mild" system hypoxia. Friedenwald Lecture
    • Steinberg RH. Monitoring communications between photoreceptors and pigment epithelial cells: effects of "mild" system hypoxia. Friedenwald Lecture. Invest Ophthalmol Vis Sci 1987;28:1888-904.
    • (1987) Invest Ophthalmol Vis Sci , vol.28 , pp. 1888-1904
    • Steinberg, R.H.1
  • 27
    • 0027741818 scopus 로고
    • The retinal pigment epithelium: A versatile partner in vision
    • Bok D. The retinal pigment epithelium: a versatile partner in vision. J Cell Sci 1993;17(Suppl):189-95.
    • (1993) J Cell Sci , vol.17 , Issue.SUPPL. , pp. 189-195
    • Bok, D.1
  • 28
    • 0022344155 scopus 로고
    • Retinal photoreceptor-pigment epithelium interactions. Friedenwald Lecture
    • Bok D. Retinal photoreceptor-pigment epithelium interactions. Friedenwald Lecture. Invest Ophthalmol Vis Sci 1985; 26:1659-94.
    • (1985) Invest Ophthalmol Vis Sci , vol.26 , pp. 1659-1694
    • Bok, D.1
  • 29
    • 0030936708 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A diabetic subtype associated with a mutation in mitochondrial DNA
    • Maassen JA, van den Ouweland JMW, 't Hart LM, Lemkes HHPJ. Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA. Horm Metab Res 1997;29:50-5.
    • (1997) Horm Metab Res , vol.29 , pp. 50-55
    • Maassen, J.A.1    Van Den Ouweland, J.M.W.2    'T Hart, L.M.3    Lemkes, H.H.P.J.4
  • 30
    • 0029914927 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A new diabetes subtype
    • Maassen JA, Kadowaki T. Maternally inherited diabetes and deafness: a new diabetes subtype. Diabetologia 1996;39:375-82.
    • (1996) Diabetologia , vol.39 , pp. 375-382
    • Maassen, J.A.1    Kadowaki, T.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.