Dominant ACO2 mutations are a frequent cause of isolated optic atrophy

Biallelic mutations in ACO2, encoding the mitochondrial aconitase 2, have been identified in individuals with neurodegenerative syndromes, including infantile cerebellar retinal degeneration and recessive optic neuropathies (locus OPA9). By screening European cohorts of individuals with genetically...

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Pubblicato in:Brain Commun
Autori principali: Charif, Majida, Gueguen, Naïg, Ferré, Marc, Elkarhat, Zouhair, Khiati, Salim, LeMao, Morgane, Chevrollier, Arnaud, Desquiret-Dumas, Valerie, Goudenège, David, Bris, Céline, Kane, Selma, Alban, Jennifer, Chupin, Stéphanie, Wetterwald, Céline, Caporali, Leonardo, Tagliavini, Francesca, LaMorgia, Chiara, Carbonelli, Michele, Jurkute, Neringa, Barakat, Abdelhamid, Gohier, Philippe, Verny, Christophe, Barth, Magalie, Procaccio, Vincent, Bonneau, Dominique, Zanlonghi, Xavier, Meunier, Isabelle, Weisschuh, Nicole, Schimpf-Linzenbold, Simone, Tonagel, Felix, Kellner, Ulrich, Yu-Wai-Man, Patrick, Carelli, Valerio, Wissinger, Bernd, Amati-Bonneau, Patrizia, Reynier, Pascal, Lenaers, Guy
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2021
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8152918/
https://ncbi.nlm.nih.gov/pubmed/34056600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/braincomms/fcab063
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