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  • Title: Leber's hereditary optic neuropathy: clinical and molecular genetic aspects. Preliminary results in our families.
    Author: Van Caelenberghe E, Meire F, Broux C, Vassart G, Cochaux P.
    Journal: Bull Soc Belge Ophtalmol; 1992; 243():139-46. PubMed ID: 1302143.
    Abstract:
    Leber's hereditary optic neuropathy (LHON) is a genetic maternally transmitted disorder characterised by sudden bilateral loss of vision. The discovery of at least one mitochondrial DNA mutation associated with the disease has provided the basis for a molecular diagnosis in about 50% of families with LHON. We present a brief review of the clinical and molecular genetic aspects of LHON along with our results in 13 patients.
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