| 1 | MT-ND5, MTENC2
|
| Leigh Syndrome Caused by the MT-ND5 m.13513G>A Mutation: A Case Presenting with WPW-Like Conduction Defect, Cardiomyopathy, Hypertension and Hyponatraemia.
|
| Brecht M, Richardson M, Taranath A, Grist S, Thorburn D, Bratkovic D.
|
| JIMD Rep IMD Rep. 2015 Feb 15. [Epub ahead of print]
2015
|
| 2 | MT-ND3, MTENC2
|
| Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3.
|
| Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, Saada A.
|
| Mol Genet Metab 100(1):65-70. Epub 2010 Feb 10.PMID: 20202874 2010
|
| 3 | MT-ND3, MTENC2
|
| A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
|
| Sarzi E, Brown MD, Lebon S, Chretien D, Munnich A, Rotig A, Procaccio V.
|
| Am J Med Genet A 143(1):33-41. 2007
|
| 4 | MTENC2, MT-ND5
|
| The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White.
|
| Ruiter EM, Siers MH, van den Elzen C, van Engelen BG, Smeitink JA, Rodenburg RJ, Hol FA.
|
| Eur J Hum Genet 15(2):155-61. Epub 2006 Nov 15. 2007
|
| 5 | MTENC2, MT-ND3
|
| Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
|
| Leshinsky-Silver E, Lev D, Tzofi-Berman Z, Cohen S, Saada A, Yanoov-Sharav M, Gilad E, Lerman-Sagie T.
|
| Biochem Biophys Res Commun 334(2):582-7. 2005
|
| 6 | MTENC2, MT-ND3
|
| De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
|
| McFarland R, Kirby DM, Fowler KJ, Ohtake A, Ryan MT, Amor DJ, Fletcher JM, Dixon JW, Collins FA, Turnbull DM, Taylor RW, Thorburn DR.
|
| Ann Neurol 55(1):58-64. 2004
|
| 7 | MTENC2, MT-ND5
|
| The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
|
| Chol M, Lebon S, Benit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rotig A, Munnich A.
|
| J Med Genet 40(3):188-91. 2003
|
| 8 | MT-ND6, MTENC2
|
| Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
| Ugalde C, Triepels RH, Coenen MJ, van den Heuvel LP, Smeets R, Uusimaa J, Briones P, Campistol J, Majamaa K, Smeitink JA, Nijtmans LG.
|
| Ann Neurol 54(5):665-9. 2003
|
| 9 | MTENC2, MT-TW, MME1
|
| Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
|
| Santorelli FM, Tanji K, Sano M, Shanske S, El-Shahawi M, Kranz-Eble P, DiMauro S, De Vivo DC.
|
| Ann Neurol 42(2):256-60. 1997
|