Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
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DOI: 10.1186/s13023-017-0641-1
Abstract: BackgroundHeterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to… read more here.
Keywords: dominant optic; opa1 mutations; expanding clinical; atrophy expanding ... See more keywords