ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Neurology"
DOI: 10.1002/ana.25723
Abstract: 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. read more here.
Keywords: afg3l2 mutations; alter opa1; optic neuropathy; mutations alter ... See more keywords