메뉴 건너뛰기




Volumn 11, Issue 2, 2005, Pages 82-86

Maternally inherited deafness and unusual phenotypic manifestations associated with A3243G mitochondrial DNA mutation

Author keywords

Deafness; MELAS; Mitochondrial disease; mtDNA A3243G; tRNALeu(UUR)

Indexed keywords

CARBAMAZEPINE; LAMOTRIGINE; MITOCHONDRIAL DNA; VALPROIC ACID;

EID: 22844442570     PISSN: 12194956     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02893371     Document Type: Article
Times cited : (4)

References (35)
  • 1
    • 0038412816 scopus 로고    scopus 로고
    • Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mtDNA deletion
    • Bene J, Nádasi E, Kosztolányi G, et al: Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mtDNA deletion. Eur J Hum Genet 11: 375-379, 2003
    • (2003) Eur J Hum Genet , vol.11 , pp. 375-379
    • Bene, J.1    Nádasi, E.2    Kosztolányi, G.3
  • 2
    • 0034956801 scopus 로고    scopus 로고
    • Epidemiology and treatment of mitochondrial disorders
    • Chinnery PF, Turnbull DM: Epidemiology and treatment of mitochondrial disorders. Am J Med Genet 106: 94-101, 2001
    • (2001) Am J Med Genet , vol.106 , pp. 94-101
    • Chinnery, P.F.1    Turnbull, D.M.2
  • 3
    • 0028818655 scopus 로고
    • Clinical spectrum of the MELAS mutation in a large pedigree
    • Damian MS, Seibel P, Reichmann H, et al: Clinical spectrum of the MELAS mutation in a large pedigree. Acta Neurol Scand 92: 409-415, 1995
    • (1995) Acta Neurol Scand , vol.92 , pp. 409-415
    • Damian, M.S.1    Seibel, P.2    Reichmann, H.3
  • 4
    • 0034444472 scopus 로고    scopus 로고
    • Mitochondrial encephalomyopathies: Therapeutic approaches
    • DiMauro S, Hirano M, Schon EA: Mitochondrial encephalomyopathies: therapeutic approaches. Neurol Sci 21: S901-S908, 2000
    • (2000) Neurol Sci , vol.21
    • Dimauro, S.1    Hirano, M.2    Schon, E.A.3
  • 5
    • 0034951327 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human disease
    • DiMauro S, Schon EA: Mitochondrial DNA mutations in human disease. Am J Med Genet 106: 18-26, 2001
    • (2001) Am J Med Genet , vol.106 , pp. 18-26
    • Dimauro, S.1    Schon, E.A.2
  • 6
    • 0036372802 scopus 로고    scopus 로고
    • Clinical features and genetics of myoclonic epilepsy with ragged red fibers
    • DiMauro S, Hirano M, Kaufmann P, et al: Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 89: 217-229, 2002
    • (2002) Adv Neurol , vol.89 , pp. 217-229
    • Dimauro, S.1    Hirano, M.2    Kaufmann, P.3
  • 7
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DiMauro S, Schon EA: Mitochondrial respiratory-chain diseases. N Engl J Med 348: 2656-2668, 2003
    • (2003) N Engl J Med , vol.348 , pp. 2656-2668
    • Dimauro, S.1    Schon, E.A.2
  • 8
    • 0033058511 scopus 로고    scopus 로고
    • Mitochondrial deafness mutations reviewed
    • Fischel-Ghodsian N: Mitochondrial deafness mutations reviewed. Hum Mut 13: 261-270, 1999
    • (1999) Hum Mut , vol.13 , pp. 261-270
    • Fischel-Ghodsian, N.1
  • 10
    • 0025666322 scopus 로고
    • A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Horai S: A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348: 651-653, 1990
    • (1990) Nature , vol.348 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 11
    • 0026795527 scopus 로고
    • Melas: An original case and clinical criteria for diagnosis
    • Hirano M, Ricci E, Koenigsberger MR, et al: Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord 2: 125-135, 1992
    • (1992) Neuromuscul Disord , vol.2 , pp. 125-135
    • Hirano, M.1    Ricci, E.2    Koenigsberger, M.R.3
  • 12
    • 0036428316 scopus 로고    scopus 로고
    • Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies
    • Huang CC, Kuo HC, Chu CC, et al: Clinical phenotype, prognosis and mitochondrial DNA mutation load in mitochondrial encephalomyopathies. J Biomed Sci 9: 527-533, 2002
    • (2002) J Biomed Sci , vol.9 , pp. 527-533
    • Huang, C.C.1    Kuo, H.C.2    Chu, C.C.3
  • 14
    • 0031418573 scopus 로고    scopus 로고
    • Mitochondrial deafness
    • Jacobs HT: Mitochondrial deafness. Ann Med 29: 438-491, 1997
    • (1997) Ann Med , vol.29 , pp. 438-491
    • Jacobs, H.T.1
  • 15
    • 0025534162 scopus 로고
    • A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
    • Kobayashi Y, Momoi MY, Tominaga K, et al: A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem Biophys Res Commun 173: 816-822, 1990
    • (1990) Biochem Biophys Res Commun , vol.173 , pp. 816-822
    • Kobayashi, Y.1    Momoi, M.Y.2    Tominaga, K.3
  • 16
    • 16544392067 scopus 로고    scopus 로고
    • The A3243G mitochondrial DNA mutation in a Hungarian family
    • Komlósi K, Bene J, Havasi V, et al: The A3243G mitochondrial DNA mutation in a Hungarian family (In Hungarian). Orv Heti 35: 1805-1809, 2004
    • (2004) Orv Heti , vol.35 , pp. 1805-1809
    • Komlósi, K.1    Bene, J.2    Havasi, V.3
  • 17
    • 0030758778 scopus 로고    scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy
    • Lam CW, Lau CH, Williams JC, et al.: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. Eur J Pediatr 156: 562-564, 1997
    • (1997) Eur J Pediatr , vol.156 , pp. 562-564
    • Lam, C.W.1    Lau, C.H.2    Williams, J.C.3
  • 18
    • 0027328501 scopus 로고
    • Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: The role of mitotic segregation
    • Macmillan C, Lach B, Shoubridge EA: Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 43: 1586-1590, 1993
    • (1993) Neurology , vol.43 , pp. 1586-1590
    • Macmillan, C.1    Lach, B.2    Shoubridge, E.A.3
  • 19
    • 0027957559 scopus 로고
    • Comparison of the relative levels of the 3243 (A→G) mtDNA mutation in heteroplasmic adult and fetal tissues
    • Matthews PM, Hopkin J, Brown RM, et al: Comparison of the relative levels of the 3243 (A→G) mtDNA mutation in heteroplasmic adult and fetal tissues. J Med Genet 31: 41-44, 1994
    • (1994) J Med Genet , vol.31 , pp. 41-44
    • Matthews, P.M.1    Hopkin, J.2    Brown, R.M.3
  • 21
    • 0023889006 scopus 로고    scopus 로고
    • MELAS syndrome: Characteristic migrainous and epileptic features and maternal transmission
    • Montagna P, Gallassi R, Medori R, et al: MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 38: 751-754, 1998
    • (1998) Neurology , vol.38 , pp. 751-754
    • Montagna, P.1    Gallassi, R.2    Medori, R.3
  • 22
    • 0034951326 scopus 로고    scopus 로고
    • Clinical spectrum and diagnosis of mitochondrial disorders
    • Munnich A, Rustin P: Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106: 4-17, 2001
    • (2001) Am J Med Genet , vol.106 , pp. 4-17
    • Munnich, A.1    Rustin, P.2
  • 24
    • 0032516823 scopus 로고    scopus 로고
    • Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: Comparison with the phenotype and the proportion of mutant genome
    • Ozawa M, Nonaka I, Goto Y: Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome. J Neurol Sci 159: 170-175, 1998
    • (1998) J Neurol Sci , vol.159 , pp. 170-175
    • Ozawa, M.1    Nonaka, I.2    Goto, Y.3
  • 25
    • 0021143782 scopus 로고
    • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
    • Pavlakis SG, Phillips PC, DiMauro S, et al: Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 16: 481-488, 1984
    • (1984) Ann Neurol , vol.16 , pp. 481-488
    • Pavlakis, S.G.1    Phillips, P.C.2    Dimauro, S.3
  • 26
    • 0027226069 scopus 로고
    • Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
    • Prezant TR, Agapian JV, Bohlman MC, et al: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 4: 289-294, 1993
    • (1993) Nat Genet , vol.4 , pp. 289-294
    • Prezant, T.R.1    Agapian, J.V.2    Bohlman, M.C.3
  • 27
    • 0036857387 scopus 로고    scopus 로고
    • Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation)
    • Pronicki M, Sykut-Cegielska J, Mierzewska H, et al: Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation). Med Sci Monit 8: CR767-CR773, 2002
    • (2002) Med Sci Monit , vol.8
    • Pronicki, M.1    Sykut-Cegielska, J.2    Mierzewska, H.3
  • 28
    • 0026462744 scopus 로고
    • Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
    • Reardon W, Ross RJM, Sweeney MG, et al: Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340: 1376-1379, 1992
    • (1992) Lancet , vol.340 , pp. 1376-1379
    • Reardon, W.1    Ross, R.J.M.2    Sweeney, M.G.3
  • 29
    • 0031053733 scopus 로고    scopus 로고
    • Maternally inherited cardiomyopathy: A new phenotype associated with the a to G at nt.3243 of mitochondrial DNA (MELAS mutation)
    • Silvestri G, Bertini E, Servidei S, et al: Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation). Muscle Nerve 20: 221-225, 1997
    • (1997) Muscle Nerve , vol.20 , pp. 221-225
    • Silvestri, G.1    Bertini, E.2    Servidei, S.3
  • 30
    • 0041622781 scopus 로고    scopus 로고
    • Temporal bone histopathology and quantitative analysis of mitochondrial DNA in MELAS
    • Takahashi K, Merchant SN, Miyazawa T, et al: Temporal bone histopathology and quantitative analysis of mitochondrial DNA in MELAS. Laryngoscope 113: 1362-1368, 2003
    • (2003) Laryngoscope , vol.113 , pp. 1362-1368
    • Takahashi, K.1    Merchant, S.N.2    Miyazawa, T.3
  • 31
    • 0034949930 scopus 로고    scopus 로고
    • Mitochondrial disorders: Genetics, counseling, prenatal diagnosis and reproductive options
    • Thorburn DR, Dahl HH: Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. Am J Med Genet 106: 102-114, 2001
    • (2001) Am J Med Genet , vol.106 , pp. 102-114
    • Thorburn, D.R.1    Dahl, H.H.2
  • 32
    • 0026906885 scopus 로고
    • (UUR) gene in a large pedigree with maternally transmitted Type II diabetes mellitus and deafness
    • (UUR) gene in a large pedigree with maternally transmitted Type II diabetes mellitus and deafness. Nat Genet 1: 368-371, 1992
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.W.1    Lemkes, H.H.P.J.2    Ruitenbeek, W.3
  • 33
    • 0034643491 scopus 로고    scopus 로고
    • Genetic causes of hearing loss
    • Willems PJ: Genetic causes of hearing loss. N Engl J Med 342: 1101-1109, 2000
    • (2000) N Engl J Med , vol.342 , pp. 1101-1109
    • Willems, P.J.1
  • 34
    • 0033549028 scopus 로고    scopus 로고
    • Cochlear histopathology associated with mitochondrial transfer RNA(Leu(UUR)) gene mutation
    • Yamasoba T, Tsukuda K, Oka Y, et al: Cochlear histopathology associated with mitochondrial transfer RNA(Leu(UUR)) gene mutation. Neurology 52: 1705-1707, 1999
    • (1999) Neurology , vol.52 , pp. 1705-1707
    • Yamasoba, T.1    Tsukuda, K.2    Oka, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.