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Leberova hereditárna optická neuropatia

  1. Subject h.Leberova hereditárna optická neuropatia
    Subject h.Optic Atrophy, Hereditary, Leber
    Entry termsLeberova dedičná atrofia zrakového nervu
    Leberova atrofia zrakového nervu, dedičná
    Leberova atrofia zrakového nervu, hereditárna
    neuroretinopatia hereditárna optická
    Leberova hereditárna optická atrofia
    Leberova dedičná atrofia optika
    English X referencesLeber Hereditary Optic Atrophy
    Scope note in EnglishA maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
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