Article
Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.
Brain : a journal of neurology - 7 Jul 2026
Fiorini Claudio, Jurkute Neringa, Torraco Alessandra, La Morgia Chiara, Ghezzi Daniele, Tioli Gaia, Rigobello Laura, Ormanbekova Danara, Berghella Alessandro, Pasti Alberto Pietro, Palombo Flavia, Barboni Piero, Cascavilla Maria Lucia, Sadun Federico, De Negri Annamaria, Bertini Enrico, Musumeci Olimpia, Ardissone Anna, Rizza Teresa, Iarossi Giancarlo, Silvestri Gabriella, Rossi Salvatore, Altobelli Anastasia, Moore Antony T, Cullup Thomas, Webster Andrew R, Davagnanam Indran, Michaelides Michel, Malka Samantha, Ptackova Hana, Stufkova Hana, Tesarova Marketa, Liskova Petra, Zeng Leopold, Klopstock Thomas, Kopajtich Robert, Neuhofer Christiane, Prokisch Holger, Lamperti Costanza, Sadun Alfredo A, Yu-Wai-Man Patrick, Carelli Valerio, Musiani Francesco, Iommarini Luisa, Carrozzo Rosalba, Arno Gavin, Caporali Leonardo
Abstract excerpt
Our understanding of the genetic landscape of inherited optic neuropathies (ION) has grown significantly over the past decades, and it is now known to involve many genes found in both the nuclear and mitochondrial genomes, exhibiting all possible inheritance patterns. Furthermore, pathogenic variants in nuclear genes encoding mitochondrial respiratory complex I (CI) subunits have been identified in some cases of...
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