| 1 | MT-ATP6, SNE1
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| Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.
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| Ronchi D, Bordoni A, Cosi A, Rizzuti M, Fassone E, Di Fonzo A, Servida M, Sciacco M, Collotta M, Ronzoni M, Lucchini V, Mattioli M, Moggio M, Bresolin N, Corti S, Comi GP.
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| Biochem Biophys Res Commun 412(2):245-8. Epub 2011 Jul 27.
2011
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| 2 | SNE1, MT-ATP6
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| Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
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| Craig K, Elliott HR, Keers SM, Lambert C, Pyle A, Graves TD, Woodward C, Sweeney MG, Davis MB, Hanna MG, Chinnery PF.
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| J Med Genet 44(12):797-9. 2007
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| 3 | MT-ATP6, NARP, SNE1
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| Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
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| Childs AM, Hutchin T, Pysden K, Highet L, Bamford J, Livingston J, Crow YJ.
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| Neuropediatrics 38(6):313-6.PMID: 18461509 2007
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| 4 | SNE1, MT-ATP6
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| NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.
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| Rojo A, Campos Y, S‡nchez JM, Bonaventura I, Aguilar M, Garc’a A, Gonz‡lez L, Rey MJ, Arenas J, OlivŽ M, Ferrer I.
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| Acta Neuropathol 111(6):610-6. Epub 2006 Mar 9. 2006
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| 5 | MAP6, MT-ATP6, SNE1
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| Two new mutations in the MTATP6 gene associated with Leigh syndrome.
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| Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E.
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| Neuropediatrics 36(5):314-8. 2005
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| 6 | SNE1
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| Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families.
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| Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR.
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| Ann Neurol 48(1):102-4. 2000
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| 7 | SNE1
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| Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
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| Makino M, et al.
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| Neuromuscul Disord 8 : 149-151. 1998
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| 8 | SNE1
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| Phenotypic variability in a family with a mitochondrial DNA T8993C mutation.
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| Suzuki Y, Wada T, Sakai T, Ishikawa Y, Minami R, Tachi N, Saitoh S.
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| Pediatr Neurol 19 : 283-286. 1998
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| 9 | SNE1
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| A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues.
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| Degoul F, et al.
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| J Inherit Metab Dis 20 : 49-53. 1997
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| 10 | SNE1
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| Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.
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| Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M.
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| J Neurol Neurosurg Psychiatry 63(1):16-22. 1997
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| 11 | SNE1
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| A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.
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| Chalmers RM, Lamont PJ, Nelson I, Ellison DW, Thomas NH, Harding AE, Hammans SR.
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| Neurology 49(2):589-92. 1997
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| 12 | SNE1
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| Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
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| Campos Y, Martin MA, Rubio JC, Solana LG, Garcia-Benayas C, Terradas JL, Arenas J.
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| Neurology 49(2):595-7. 1997
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| 13 | LGS, PDHA1, SNE1, SNELS, SURF1
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| Leigh syndrome : clinical features and biochemical and DNA abnormalities.
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| Rahman S, et al.
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| Ann Neurol 39 : 343-351. 1996
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| 14 | SNE1
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| Leigh syndrome associated with mitochondrial DNA 8993 T-G mutation and ragged-red fibers.
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| Mak SC, et al.
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| Pediatr Neurol 15 : 72-75. 1996
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| 15 | SNE1
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| De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring.
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| Tulinius MH, et al.
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| Hum Genet 96 : 290-294. 1995
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| 16 | SNE1, NARP
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| Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).
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| Pastores GM, et al.
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| Am J Med Genet 50 : 265-271. 1994
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| 17 | SNE1
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| A T-C mutation at nt8993 of mitochondrial DNA in a child with Leigh syndrome.
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| Santorelli FM, et al.
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| Neurology 44 : 972-974. 1994
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| 18 | SNE1
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| A second missense mutation in the mitochondrial ATPase 6 gene in Leigh'ssyndrome.
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| de Vries DD, et al.
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| Ann Neurol 34 : 410-412. 1993
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| 19 | SNE1
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| Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
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| Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH.
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| Am J Hum Genet 50 : 852-858. 1992
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| 20 | SNE1
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| Subacute necrotizing encephalopathy : oxidative phosphorylation defects and the ATPase 6 point mutation.
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| Shoffner JM, et al.
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| Neurology 42 : 2168-2174. 1992
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| 21 | SNE1
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| Direct sequencing of deleted mitochondrial DNA in myopathic patients.
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| Tanaka M, et al.
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| Biochem Biophys Res Commun 164 : 156-163. 1989
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