Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
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DOI: 10.3892/br.2017.987
Abstract: Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability. Although a number of mutations in different genes are now known… read more here.
Keywords: like matrix; dominant optic; optic atrophy; afg3 like ... See more keywords