MTTV |
m.1644G>T |
LS; MELAS |
[12]
12. Goldenberg PC, Steiner RD, Merkens LS, et al. Remarkable improvement in adult Leigh syndrome with partial cytochrome c oxidase deficiency. Neurology. 2003;60(5):865-868. doi:10.1212/01.WNL.0000049460.72439.7F https://doi.org/10.1212/01.WNL.000004946...
|
MTTL |
m.3243A>G |
MELAS; LS |
[13]
13. Vilarinho L, Santorelli FM, Coelho I, et al. The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families. J Neurol Sci. 1999;163(2):168-174. doi:10.1016/S0022-510X(99)00030-1 https://doi.org/10.1016/S0022-510X(99)00...
|
MTND1 |
m.3460G>A |
LHON; LS |
[14]
14. Funalot B, Reynier P, Vighetto A, et al. Leigh-like encephalopathy complicating Leber’s hereditary optic neuropathy. Ann Neurol. 2002;52(3):374-377. doi:10.1002/ana.10299 https://doi.org/10.1002/ana.10299...
|
MTND1 |
m.3697G>A |
MELAS; LS |
[15]
15. Kirby DM, McFarland R, Ohtake A, et al. Mutations of the mitochondrial ND1 gene as a cause of MELAS. J Med Genet. 2004;41(10):784-789. doi:10.1136/jmg.2004.020537 https://doi.org/10.1136/jmg.2004.020537...
|
MTND2 |
m.4681T>C |
LS |
[16]
16. Ugalde C, Hinttala R, Timal S, et al. Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome. Mol Genet Metab. 2007;90(1):10-14. doi:10.1016/j.ymgme.2006.08.003 https://doi.org/10.1016/j.ymgme.2006.08....
|
MTTW |
m.5537insT |
LS |
[17]
17. Santorelli FM, Tanji K, Sano M, et al. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. Ann Neurol. 1997;42(2):256-260. doi:10.1002/ana.410420220 https://doi.org/10.1002/ana.410420220...
|
MTTK |
m.8344A>G |
MERRF; LS |
[18]
18. Howell N, Kubacka I, Smith R, Frerman F, Parks JK, Parker WD. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease. Neurology. 1996;46(1):219-222. doi:10.1212/WNL.46.1.219 https://doi.org/10.1212/WNL.46.1.219...
|
MTTK |
m.8363G>A |
LS; MERRF; DEAF |
[19]
19. Shtilbans A, Shanske S, Goodman S, et al. G8363A mutation in the mitochondrial DNA transfer ribonucleic acid Lys gene: another cause of Leigh syndrome. J Child Neurol. 2000;15(11):759-761. doi:10.1177/088307380001501109 https://doi.org/10.1177/0883073800015011...
|
MTATP6 |
m.8993T>G |
LS; NARP |
[20]
20. Holt IJ, Harding AE, Petty RK, et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990;46:428-433.
|
MTATP6 |
m.8993T>C |
LS; NARP |
[21]
21. de Vries DD, Van Engelen BG, Gabreels FJ, Ruitenbeek W, van Oost BA. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh’s syndrome. Ann Neurol. 1993;34(3):410-412. doi:10.1002/ana.410340319 https://doi.org/10.1002/ana.410340319...
|
MTATP6 |
m.9176T>G |
LS |
[22]
22. Carrozzo R, Murray J, Santorelli FM, Capaldi RA. The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli. FEBS Lett. 2000;486(3):297-299. doi:10.1016/S0014-5793(00)02244-4 https://doi.org/10.1016/S0014-5793(00)02...
|
MTATP6 |
m.9176T>C |
LS;FBSN |
[23]
23. Thyagarajan D, Shanske S, Vazquez-Memije M, Devivo D, Dimauro S. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann Neurol. 1995;38(3):468-472. doi:10.1002/ana.410380321 https://doi.org/10.1002/ana.410380321...
|
MTATP6 |
m.9185T>C |
LS; Ataxia; NARP-like |
[24]
24. Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics. 2005;36(5):314-318. doi:10.1055/s-2005-872845 https://doi.org/10.1055/s-2005-872845...
|
MTATP6 |
m.9191T>C |
LS |
[24]
24. Moslemi AR, Darin N, Tulinius M, Oldfors A, Holme E. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics. 2005;36(5):314-318. doi:10.1055/s-2005-872845 https://doi.org/10.1055/s-2005-872845...
|
MTCO3 |
m.9537insC |
LS-like |
[25]
25. Tiranti V, Corona P, Greco M, et al. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet. 2000;9(18):2733-2742. doi:10.1093/hmg/9.18.2733 https://doi.org/10.1093/hmg/9.18.2733...
|
MTCO3 |
m.9547G>A |
LS |
[25]
25. Tiranti V, Corona P, Greco M, et al. A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum Mol Genet. 2000;9(18):2733-2742. doi:10.1093/hmg/9.18.2733 https://doi.org/10.1093/hmg/9.18.2733...
|
MTND3 |
m.10158T>C |
LS |
[26]
26. Crimi M, Papadimitriou A, Galbiati S, et al. A new mitochondrial DNA mutation in ND3 gene causing severe Leigh Syndrome with early lethality. Pediatr Res. 2004;55(5):842-846. doi:10.1203/01.PDR.0000117844.73436.68 https://doi.org/10.1203/01.PDR.000011784...
|
MTND3 |
m.10191T>C |
LS; LS-like; ESOC |
[27]
27. Taylor RW, Singh-Kler R, Hayes CM, Smith PE, Turnbull DM. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol. 2001;50(1):104-107. doi:10.1002/ana.1084 https://doi.org/10.1002/ana.1084...
|
MTND3 |
m.10197G>A |
LS; LDYT; MELAS |
[15]
15. Kirby DM, McFarland R, Ohtake A, et al. Mutations of the mitochondrial ND1 gene as a cause of MELAS. J Med Genet. 2004;41(10):784-789. doi:10.1136/jmg.2004.020537 https://doi.org/10.1136/jmg.2004.020537...
|
MTND4 |
m.11777C>A |
LS |
[28]
28. Komaki H, Akanuma J, Iwata H, et al. A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion. 2003;2(4):293-304. doi:10.1016/S1567-7249(03)00003-5 https://doi.org/10.1016/S1567-7249(03)00...
|
MTND4 |
m.11984T>C |
LS |
[29]
29. Vanniarajan A, Rajshekher GP, Joshi MB, Reddy AG, Singh L, Thangaraj K. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome. Acta Neurol Scand. 2006;114(5):350-353. doi:10.1111/j.1600-0404.2006.00673.x https://doi.org/10.1111/j.1600-0404.2006...
|
MTND5 |
m.12706T>C |
LS |
[30]
30. Taylor RW, Morris AA, Hutchinson M, Turnbull DM. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet. 2002;10(2):141-144. doi:10.1038/sj.ejhg.5200773 https://doi.org/10.1038/sj.ejhg.5200773...
|
MTND5 |
m.13045A>C |
MELAS; LHON; LS |
[31]
31. Liolitsa D, Rahman S, Benton S, Carr LJ, Hanna MG. Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? Ann Neurol. 2003;53(1):128-132. doi:10.1002/ana.10435 https://doi.org/10.1002/ana.10435...
|
MTND5 |
m.13084A>T |
MELAS; LS |
[32]
32. Crimi M, Galbiati S, Moroni I, et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology. 2003;60(11):1857-1861. doi:10.1212/01.WNL.0000066048.72780.69 https://doi.org/10.1212/01.WNL.000006604...
|
MTND5 |
m.13511T>C
|
LS-like |
[33]
33. Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet. 2007;44(4):e74. doi:10.1136/jmg.2006.045716 https://doi.org/10.1136/jmg.2006.045716...
|
MTND5 |
m.13513G>A |
MELAS; LS |
[34]
34. Santorelli FM, Tanji K, Kulikova R, et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun. 1997;238(2):326-328. doi:10.1006/bbrc.1997.7167 https://doi.org/10.1006/bbrc.1997.7167...
|
MTND5 |
m.13514A>G |
MELAS; LS |
[35]
35. 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(1):106-110. doi:10.1002/1531-8249(200101)49:13.0.CO;2-T https://doi.org/10.1002/1531-8249(200101...
|
MTND6 |
m.14459G>A |
LS; LHON |
[36]
36. Jun AS, Brown MD, Wallace DC. A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber’s hereditary optic neuropathy and dystonia. Proc Natl Acad Sci USA. 1994;91(13):6206-6210. doi:10.1073/pnas.91.13.6206 https://doi.org/10.1073/pnas.91.13.6206...
|
MTND6 |
m.14487T>C |
LS; Dystonia; Ataxia |
[37]
37. Solano A, Roig M, Vives-Bauza C, et al. Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene. Ann Neurol. 2003;54(4):527-530. doi:10.1002/ana.10682 https://doi.org/10.1002/ana.10682...
|
MTND6 |
m.14600G>A |
LS; Optic atrophy |
[38]
38. Malfatti E, Bugiani M, Invernizzi F, et al. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain. 2007;130(7):1894-1904. doi:10.1093/brain/awm114 https://doi.org/10.1093/brain/awm114...
|