메뉴 건너뛰기




Volumn 19, Issue 12, 2011, Pages 1226-1229

Maternally inherited mitochondrial DNA disease in consanguineous families

Author keywords

consanguineous disease; genetic counselling; mitochondrial DNA

Indexed keywords

LACTIC ACID; MITOCHONDRIAL DNA; ORAL CONTRACEPTIVE AGENT;

EID: 81455154574     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.124     Document Type: Article
Times cited : (21)

References (23)
  • 1
    • 39049156470 scopus 로고    scopus 로고
    • Prevalence of mitochondrial DNA disease in adults
    • Schaefer AM, McFarland R, Blakely EL et al: Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008; 63: 35-39.
    • (2008) Ann. Neurol. , vol.63 , pp. 35-39
    • Schaefer, A.M.1    McFarland, R.2    Blakely, E.L.3
  • 2
    • 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: 457-465.
    • (1981) Nature , vol.290 , pp. 457-465
    • Anderson, S.1    Bankier, A.T.2    Barrell, B.G.3
  • 3
    • 33846846449 scopus 로고    scopus 로고
    • X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy
    • Fernandez-Moreira D, Ugalde C, Smeets R et al: X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Ann Neurol 2007; 61: 73-83.
    • (2007) Ann. Neurol. , vol.61 , pp. 73-83
    • Fernandez-Moreira, D.1    Ugalde, C.2    Smeets, R.3
  • 4
    • 77950326171 scopus 로고    scopus 로고
    • Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor
    • Ghezzi D, Sevrioukova I, Invernizzi F et al: Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 2010; 86: 639-649.
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 639-649
    • Ghezzi, D.1    Sevrioukova, I.2    Invernizzi, F.3
  • 5
    • 77957606541 scopus 로고    scopus 로고
    • High-throughput pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
    • Calvo SE, Tucker EJ, Compton AG et al: High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet 2010; 42: 851-858.
    • (2010) Nat. Genet. , vol.42 , pp. 851-858
    • Calvo, S.E.1    Tucker, E.J.2    Compton, A.G.3
  • 6
    • 4944260285 scopus 로고    scopus 로고
    • Mitochondrial disorders
    • Zeviani M, Di Donato S: Mitochondrial disorders. Brain 2004; 127: 2153-2172.
    • (2004) Brain , vol.127 , pp. 2153-2172
    • Zeviani, M.1    Di Donato, S.2
  • 7
    • 77955330843 scopus 로고    scopus 로고
    • A neurological perspective on mitochondrial disease
    • McFarland R, Taylor RW, Turnbull DM: A neurological perspective on mitochondrial disease. Lancet Neurol 2010; 9: 829-840.
    • (2010) Lancet Neurol. , vol.9 , pp. 829-840
    • McFarland, R.1    Taylor, R.W.2    Turnbull, D.M.3
  • 9
    • 77957657807 scopus 로고    scopus 로고
    • The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
    • Tuppen HAL, Hogan VE, He L et al: The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. Brain 2010; 133: 2952-2963.
    • (2010) Brain , vol.133 , pp. 2952-2963
    • Tuppen, H.A.L.1    Hogan, V.E.2    He, L.3
  • 10
    • 0035112764 scopus 로고    scopus 로고
    • A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients
    • Corona P, Antozzi C, Carrara F et al: A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 2001; 49: 106-110.
    • (2001) Ann. Neurol. , vol.49 , pp. 106-110
    • Corona, P.1    Antozzi, C.2    Carrara, F.3
  • 11
    • 9144223005 scopus 로고    scopus 로고
    • Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency
    • Lebon S, Chol M, Benit P et al: Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 2003; 40: 896-899.
    • (2003) J. Med. Genet. , vol.40 , pp. 896-899
    • Lebon, S.1    Chol, M.2    Benit, P.3
  • 12
    • 12844286989 scopus 로고    scopus 로고
    • Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes
    • Anitori R, Manning K, Quan F et al: Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. Mol Genet Metab 2005; 84: 176-188.
    • (2005) Mol. Genet. Metab. , vol.84 , pp. 176-188
    • Anitori, R.1    Manning, K.2    Quan, F.3
  • 13
    • 65249126910 scopus 로고    scopus 로고
    • Mitochondrial complex I deficiency: From organelle dysfunction to clinical disease
    • Distelmaier F, Koopman WJ, van den Heuvel LP et al: Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain 2009; 132: 833-842.
    • (2009) Brain , vol.132 , pp. 833-842
    • Distelmaier, F.1    Koopman, W.J.2    Van Den Heuvel, L.P.3
  • 14
    • 79959218252 scopus 로고    scopus 로고
    • Respiratory chain complex I deficiency caused by mitochondrial DNA mutations
    • Swalwell H, Kirby DM, Blakely EL et al: Respiratory chain complex I deficiency caused by mitochondrial DNA mutations. Eur J Hum Genet 2011; 19: 769-775.
    • (2011) Eur. J. Hum. Genet. , vol.19 , pp. 769-775
    • Swalwell, H.1    Kirby, D.M.2    Blakely, E.L.3
  • 15
    • 53049098744 scopus 로고    scopus 로고
    • Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseas.
    • Sugiana C, Pagliarini DJ, McKenzie M et al: Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet 2008; 83: 468-478.
    • (2008) Am. J. Hum. Genet. , vol.83 , pp. 468-478
    • Sugiana, C.1    Pagliarini, D.J.2    McKenzie, M.3
  • 16
    • 4644310825 scopus 로고    scopus 로고
    • Noninvasive diagnosis of the 3243A 4 G mitochondrial DNA mutation using urinary epithelial cells
    • McDonnell MT, Schaefer AM, Blakely EL et al: Noninvasive diagnosis of the 3243A 4 G mitochondrial DNA mutation using urinary epithelial cells. Eur J Hum Genet 2004; 12: 778-781.
    • (2004) Eur. J. Hum. Genet. , vol.12 , pp. 778-781
    • McDonnell, M.T.1    Schaefer, A.M.2    Blakely, E.L.3
  • 17
    • 62149101621 scopus 로고    scopus 로고
    • Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A4G mtDNA mutation
    • Whittaker RG, Blackwood JK, Alston CL et al: Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A4G mtDNA mutation. Neurology 2009; 72: 568-569.
    • (2009) Neurology , vol.72 , pp. 568-569
    • Whittaker, R.G.1    Blackwood, J.K.2    Alston, C.L.3
  • 18
    • 17744393686 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations in human disease
    • Taylor RW, Turnbull DM: Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005; 6: 389-402.
    • (2005) Nat. Rev. Genet. , vol.6 , pp. 389-402
    • Taylor, R.W.1    Turnbull, D.M.2
  • 19
    • 70350707763 scopus 로고    scopus 로고
    • Pathogenic mitochondrial tRNA mutations-which mutations are inherited and why
    • Elson JL, Swalwell H, Blakely EL et al: Pathogenic mitochondrial tRNA mutations-which mutations are inherited and why? Hum Mutat 2009; 30: E984-E992.
    • (2009) Hum Mutat , vol.30
    • Elson, J.L.1    Swalwell, H.2    Blakely, E.L.3
  • 20
    • 78649454768 scopus 로고    scopus 로고
    • FOXRED1 encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone is mutated in infantile-onset mitochondrial encephalopathy
    • Fassone E, Duncan AJ, Taanman JW et al: FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. Hum Mol Genet 2010; 19: 4837-4847.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 4837-4847
    • Fassone, E.1    Duncan, A.J.2    Taanman, J.W.3
  • 21
    • 65149105599 scopus 로고    scopus 로고
    • The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency
    • Di Fonzo A, Ronchi D, Lodi T et al: The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet 2009; 84: 594-604.
    • (2009) Am. J. Hum. Genet. , vol.84 , pp. 594-604
    • Di Fonzo, A.1    Ronchi, D.2    Lodi, T.3
  • 22
    • 77955082781 scopus 로고    scopus 로고
    • Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect
    • Antonicka H, Ostergaard E, Sasarman F et al: Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet 2010; 87: 115-122.
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 115-122
    • Antonicka, H.1    Ostergaard, E.2    Sasarman, F.3
  • 23
    • 78249252356 scopus 로고    scopus 로고
    • Defective mitochondrial mRNA maturation is associated with spastic ataxia
    • Crosby AH, Patel H, Chioza BA et al: Defective mitochondrial mRNA maturation is associated with spastic ataxia. Am J Hum Genet 2010; 87: 655-660.
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 655-660
    • Crosby, A.H.1    Patel, H.2    Chioza, B.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.