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ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

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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… Click to show full 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.

Keywords: afg3l2 mutations; alter opa1; optic neuropathy; mutations alter; atpase domain; domain afg3l2

Journal Title: Annals of Neurology
Year Published: 2020

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