Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.
Fiorini C, Jurkute N, Torraco A, La Morgia C, Ghezzi D, Tioli G, Rigobello L, Ormanbekova D, Berghella A, Pietro Pasti A, Palombo F, Barboni P, Lucia Cascavilla M, Sadun F, De Negri A, Bertini E, Musumeci O, Ardissone A, Rizza T, Iarossi G, Silvestri G, Rossi S, Altobelli A, Moore AT, Cullup T, Webster AR, Davagnanam I, Michaelides M, Malka S, Ptackova H, Stufkova H, Tesarova M, Liskova P, Zeng L, Klopstock T, Kopajtich R, Neuhofer C, Prokisch H, Lamperti C, Sadun AA, Yu-Wai-Man P, Carelli V, Musiani F, Iommarini L, Carrozzo R, Arno G, Caporali L.
Fiorini C, et al. Among authors: yu wai man p.
Brain. 2025 Nov 14:awaf422. doi: 10.1093/brain/awaf422. Online ahead of print.
Brain. 2025.
PMID: 41234160