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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Majida Charif, Naïg Gueguen, Marc Ferré, Zouhair Elkarhat, Salim Khiati, Morgane LeMao, Arnaud Chevrollier, Valerie Desquiret-Dumas, David Goudenège, Céline Bris, Selma Kane, Jennifer Alban, Stéphanie Chupin, Céline Wetterwald, Leonardo Caporali, Francesca Tagliavini, Chiara LaMorgia, Michele Carbonelli, Neringa Jurkute, Abdelhamid Barakat, Philippe Gohier, Christophe Verny, Magalie Barth, Vincent Procaccio, Dominique Bonneau, Xavier Zanlonghi, Isabelle Meunier, Nicole Weisschuh, Simone Schimpf-Linzenbold, Felix Tonagel, Ulrich Kellner, Patrick Yu-Wai-Man, Valerio Carelli, Bernd Wissinger, Patrizia Amati-Bonneau, Pascal Reynier, European ION Group, Guy Lenaers
Jul 02, 2021
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...