References
- Fraser JA, Biousse V, Newman NJ. The neuro-ophthalmology of mitochondrial disease. Surv Ophthamol 2010;55:299–334.
- Nikoskelainen EK, Martilla RJ, Huoponen K, et al. Leber’s plus: neurological abnormalities in patients with Leber’s hereditary optic neuropathy. J Neurol 1995;59:160–164.
- Wallace DC A new manifestation of Leber’s disease and a new explanation for the agency responsible for this unusual pattern of inheritance. Brain 1970;93:121–132.
- Mancuso M, Orsucci D, Angelini C, et al. The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? J Neurol 2014;261:504–510.
- Blakely EL, de Silva R, King A, et al. LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation. Eur J Hum Genet 2005;13:623–627.
- Zhao D, Hong D, Zhang W, et al. Mutations in the mitochondrially encoded complex I enzyme as the second cause in the cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. J Hum Genet 2011;56:759–764.
- Blok MJ, Spruijt L, de Coo IFM, et al. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet 2007;44:1–5.
- Crimi M, Galbiati S, Moroni I, et al. A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 2000;60:1857–1861.
- Bai Y, Shakeley RM, Attardi G. Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria. Mol Cell Biol 2000;20:805–815.
- Shanske S, Eunson L, Patterson V, et al. The G13513A mutation in the ND5 gene of the mitochondrial DNA is a common cause of MELAS or Leigh syndrome: evidence from 12 cases. Arch Neurol 2008;65:368–372.
- Pulkes T, Eunson L, Patterson V, et al. The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS. Ann Neurol 1999;46:916–919.
- Mayorov V, Biousse V, Newman J, et al. The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. Ann Neurol 2005:58:807–811.
- Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res 2004;23:53–89.
- Hasegawa H, Matsuoka T, Goro Y, et al. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol 1991;29:601–605.
- Cavanagh JB, Harding BN. Pathogenetic factors underlying the lesions in Leigh’s disease. Tissue responses to cellular energy deprivation and their clinico-pathological consequence. Brain 1994;117:1357–1376.
- Hofman P, Hoyng P, vanderWerf F, et al. Lack of blood-brain barrier properties in microvessels of the prelaminar optic nerve head. Invest Ophtalmol 2011;42:895–901.