ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

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 found in 70% of DOA patients, with a significant number remaining undiagnosed. METHODS: We screened 286 index cases presenting optic atrophy, negative...

Full description

Saved in:
Bibliographic Details
Published in:Ann Neurol
Main Authors: Caporali, Leonardo, Magri, Stefania, Legati, Andrea, Del Dotto, Valentina, Tagliavini, Francesca, Balistreri, Francesca, Nasca, Alessia, La Morgia, Chiara, Carbonelli, Michele, Valentino, Maria L., Lamantea, Eleonora, Baratta, Silvia, Schöls, Ludger, Schüle, Rebecca, Barboni, Piero, Cascavilla, Maria L., Maresca, Alessandra, Capristo, Mariantonietta, Ardissone, Anna, Pareyson, Davide, Cammarata, Gabriella, Melzi, Lisa, Zeviani, Massimo, Peverelli, Lorenzo, Lamperti, Costanza, Marzoli, Stefania B., Fang, Mingyan, Synofzik, Matthis, Ghezzi, Daniele, Carelli, Valerio, Taroni, Franco
Format: Artigo
Language:Inglês
Published: John Wiley & Sons, Inc. 2020
Subjects:
Research Articles
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7383914/
https://ncbi.nlm.nih.gov/pubmed/32219868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.25723
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items