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3. [Leigh syndrome caused by the mitochondrial DNA G14459A mutation in a Mexican family]. Gutiérrez A; Saldaña-Martínez A; García-Ramírez R; Rayo-Mares D; Carreras M; López-Pérez MJ; Ruiz-Pesini E; Montoya J; Montiel-Sosa JF Rev Neurol; 2009 Sep 1-15; 49(5):248-50. PubMed ID: 19714555 [TBL] [Abstract][Full Text] [Related]
4. A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Santorelli FM; Shanske S; Jain KD; Tick D; Schon EA; DiMauro S Neurology; 1994 May; 44(5):972-4. PubMed ID: 8190310 [TBL] [Abstract][Full Text] [Related]
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6. 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; 111(6):610-6. PubMed ID: 16525806 [TBL] [Abstract][Full Text] [Related]
8. Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications. Makino M; Horai S; Goto Y; Nonaka I J Hum Genet; 2000; 45(2):69-75. PubMed ID: 10721666 [TBL] [Abstract][Full Text] [Related]
9. Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure. Mak SC; Chi CS; Tsai CR J Child Neurol; 1998 Jul; 13(7):349-51. PubMed ID: 9701486 [No Abstract] [Full Text] [Related]
10. Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome. Yang YL; Sun F; Zhang Y; Qian N; Yuan Y; Wang ZX; Qi Y; Xiao JX; Wang XY; Qi ZY; Zhang YH; Jiang YW; Bao XH; Qin J; Wu XR Chin Med J (Engl); 2006 Mar; 119(5):373-7. PubMed ID: 16542579 [TBL] [Abstract][Full Text] [Related]
11. Mitochondrial disorders. DiMauro S; Andreu AL; De Vivo DC J Child Neurol; 2002 Dec; 17 Suppl 3():3S35-45; discussion 3S46-7. PubMed ID: 12597054 [TBL] [Abstract][Full Text] [Related]
12. 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; 34(6):827-34. PubMed ID: 8250532 [TBL] [Abstract][Full Text] [Related]
13. [Adult leigh syndrome with mitochondrial DNA mutation at 8993--mutation ratio analysis on formalin-fixed autopsy tissues]. Nagashima T Rinsho Shinkeigaku; 2001; 41(2-3):157. PubMed ID: 11481863 [No Abstract] [Full Text] [Related]
14. Low citrulline in Leigh disease: still a biomarker of maternally inherited Leigh syndrome. Debray FG; Lambert M; Allard P; Mitchell GA J Child Neurol; 2010 Aug; 25(8):1000-2. PubMed ID: 20472868 [TBL] [Abstract][Full Text] [Related]
15. Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. Dionisi-Vici C; Seneca S; Zeviani M; Fariello G; Rimoldi M; Bertini E; De Meirleir L J Inherit Metab Dis; 1998 Feb; 21(1):2-8. PubMed ID: 9501263 [TBL] [Abstract][Full Text] [Related]
17. [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; 2002 Jun 16-30; 34(12):1124-6. PubMed ID: 12134275 [TBL] [Abstract][Full Text] [Related]
18. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. de Vries DD; van Engelen BG; Gabreëls FJ; Ruitenbeek W; van Oost BA Ann Neurol; 1993 Sep; 34(3):410-2. PubMed ID: 8395787 [TBL] [Abstract][Full Text] [Related]
19. Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993 > G mutation. Martín MA; Campos Y; García-Silva MT; Rubio JC; Del Hoyo P; de Bustos F; García A; Arenas J J Inherit Metab Dis; 1999 Dec; 22(8):939-40. PubMed ID: 10604149 [No Abstract] [Full Text] [Related]