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atrofia zrakového nervu, autozomálne dominantná
Subject h. atrofia zrakového nervu, autozomálne dominantná Subject h. Optic Atrophy, Autosomal Dominant Entry terms atrofia zrakového nervu, dominantná
atrofia zrakového nervu, dedičná, autozomálne dominantná
atrofia zrakového nervu, hereditárna, autozómovo dominantná
atrofia zrakového nervu, autozómovo dominantnáEnglish X references Dominant Optic Atrophy
Optic Atrophy, Hereditary, Autosomal DominantScope note in English Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria. 
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