ATPase Domain <scp><i>AFG3L2</i></scp> Mutations Alter <scp>OPA1</scp> Processing and Cause Optic Neuropathy

Abstract

This study demonstrates that mutations in AFG3L2 are a relevant cause of optic neuropathy, broadening the spectrum of clinical manifestations and genetic mechanisms associated with AFG3L2 mutations, and underscores the pivotal role of OPA1 and its processing in the pathogenesis of DOA. ANN NEUROL 2020 ANN NEUROL 2020;88:18-32.