Gene Review:
OPA3 - optic atrophy 3 (autosomal recessive, with...
Homo sapiens
Synonyms:
FLJ22187, MGA3, Optic atrophy 3 protein
- Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Anikster, Y., Kleta, R., Shaag, A., Gahl, W.A., Elpeleg, O. Am. J. Hum. Genet. (2001)
- Mitochondrial Abnormalities in Patients with LHON-like Optic Neuropathies. Abu-Amero, K.K., Bosley, T.M. Invest. Ophthalmol. Vis. Sci. (2006)
- OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. Reynier, P., Amati-Bonneau, P., Verny, C., Olichon, A., Simard, G., Guichet, A., Bonnemains, C., Malecaze, F., Malinge, M.C., Pelletier, J.B., Calvas, P., Dollfus, H., Belenguer, P., Malthièry, Y., Lenaers, G., Bonneau, D. J. Med. Genet. (2004)
- OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. Neas, K., Bennetts, B., Carpenter, K., White, R., Kirk, E.P., Wilson, M., Kelley, R., Baric, I., Christodoulou, J. J. Inherit. Metab. Dis. (2005)
- Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Wortmann, S., Rodenburg, R.J., Huizing, M., Loupatty, F.J., de Koning, T., Kluijtmans, L.A., Engelke, U., Wevers, R., Smeitink, J.A., Morava, E. Mol. Genet. Metab. (2006)
- 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. Kleta, R., Skovby, F., Christensen, E., Rosenberg, T., Gahl, W.A., Anikster, Y. Mol. Genet. Metab. (2002)