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
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations
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DOI: 10.1212/wnl.0000000000003491
Abstract: Objective: To investigate mitophagy in 5 patients with severe dominantly inherited optic atrophy (DOA), caused by depletion of OPA1 (a protein that is essential for mitochondrial fusion), compared with healthy controls. Methods: Patients with severe… read more here.
Keywords: opa1 mutations; mitophagy mitochondrial; optic atrophy; dysregulated mitophagy ... See more keywords