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195 related items for PubMed ID: 16546428

  • 1. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load.
    Enns GM, Bai RK, Beck AE, Wong LJ.
    Mol Genet Metab; 2006 Aug; 88(4):364-71. PubMed ID: 16546428
    [Abstract] [Full Text] [Related]

  • 2. [Leigh syndrome resulting from a de novo mitochondrial DNA mutation (T8993G)].
    Playán A, Solano-Palacios A, González de la Rosa JB, Merino-Arribas JM, Andreu AL, López-Pérez M, Montoya J.
    Rev Neurol; 2006 Aug; 34(12):1124-6. PubMed ID: 12134275
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  • 3. [Variation in manifestations of heteroplasmic mtDNA mutation 8993 T>G in two families].
    Tesarová M, Hansíková H, Hlavatá A, Klement P, Houst'ková H, Houstĕk J, Zeman J.
    Cas Lek Cesk; 2002 Aug 30; 141(17):551-4. PubMed ID: 12404959
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  • 4. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
    Rojo A, Campos Y, Sánchez JM, Bonaventura I, Aguilar M, García A, González L, Rey MJ, Arenas J, Olivé M, Ferrer I.
    Acta Neuropathol; 2006 Jun 30; 111(6):610-6. PubMed ID: 16525806
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  • 5. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.
    Tsao CY, Mendell JR, Bartholomew D.
    J Child Neurol; 2001 Jul 30; 16(7):533-5. PubMed ID: 11453454
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  • 6. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.
    White SL, Shanske S, Biros I, Warwick L, Dahl HM, Thorburn DR, Di Mauro S.
    Prenat Diagn; 1999 Dec 30; 19(12):1165-8. PubMed ID: 10590437
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  • 7. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
    Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP.
    Am J Med Genet; 1994 Apr 15; 50(3):265-71. PubMed ID: 8042671
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  • 8. Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA.
    Leshinsky-Silver E, Perach M, Basilevsky E, Hershkovitz E, Yanoov-Sharav M, Lerman-Sagie T, Lev D.
    Prenat Diagn; 2003 Jan 15; 23(1):31-3. PubMed ID: 12533809
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  • 9. Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.
    Steffann J, Gigarel N, Corcos J, Bonnière M, Encha-Razavi F, Sinico M, Prevot S, Dumez Y, Yamgnane A, Frydman R, Munnich A, Bonnefont JP.
    J Med Genet; 2007 Oct 15; 44(10):664-9. PubMed ID: 17545557
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  • 10. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
    Santorelli FM, Shanske S, Macaya A, DeVivo DC, DiMauro S.
    Ann Neurol; 1993 Dec 15; 34(6):827-34. PubMed ID: 8250532
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  • 12. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
    Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D, Thorburn DR.
    Ann Neurol; 2003 Oct 15; 54(4):473-8. PubMed ID: 14520659
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  • 14. Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
    Santorelli FM, Mak SC, Vazquez-Memije ME, Shanske S, Kranz-Eble P, Jain KD, Bluestone DL, De Vivo DC, DiMauro S.
    Pediatr Res; 1996 May 15; 39(5):914-7. PubMed ID: 8726250
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  • 15. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein.
    López-Gallardo E, Solano A, Herrero-Martín MD, Martínez-Romero I, Castaño-Pérez MD, Andreu AL, Herrera A, López-Pérez MJ, Ruiz-Pesini E, Montoya J.
    J Med Genet; 2009 Jan 15; 46(1):64-7. PubMed ID: 19124644
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  • 16. Diagnostic challenges of mitochondrial DNA disorders.
    Wong LJ.
    Mitochondrion; 2007 Jan 15; 7(1-2):45-52. PubMed ID: 17276740
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  • 19. Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.
    Porto FB, Mack G, Sterboul MJ, Lewin P, Flament J, Sahel J, Dollfus H.
    Am J Ophthalmol; 2001 Dec 15; 132(6):935-7. PubMed ID: 11730668
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  • 20. Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.
    Carelli V, Baracca A, Barogi S, Pallotti F, Valentino ML, Montagna P, Zeviani M, Pini A, Lenaz G, Baruzzi A, Solaini G.
    Arch Neurol; 2002 Feb 15; 59(2):264-70. PubMed ID: 11843698
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