ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

Caporali, L; Magri, S; Legati, A; Del Dotto, V; Tagliavini, F; Balistreri, F; Nasca, A; La Morgia, C; Carbonelli, M; Valentino, ML; Lamantea, E; Baratta, S; Schols, L; Schule, R; Barboni, P; Cascavilla, ML; Maresca, A; Capristo, M; Ardissone, A; Pareyson, D; Cammarata, G; Melzi, L; Zeviani, M; Peverelli, L; Lamperti, C; Marzoli, SB; Fang, MY; Synofzik, M; Ghezzi, D; Carelli, V; Taroni, F

Carelli, V (corresponding author), Osped Bellaria, Neurol Unit, IRCCS Ist Sci Neurol Bologna, Via Altura 1-8, I-40139 Bologna, Italy.; Taroni, F (corresponding author), Fdn IRCCS Ist Neurol Carlo Besta, Unit Med Genet & Neurogenet, Via Celoria 11, I-20133 Milan, Italy.

ANNALS OF NEUROLOGY, 2020; 88 (1): 18

Abstract

Objective Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are fo......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索