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  • Title: [Leber's hereditary optic neuropathy (LHON) with mutation at G3460A and MS-like phenotype].
    Author: Jamrozik Z, Tutaj A, Piechowski-Jóźwiak B, Mroczek-Tońska K, Bartnik E, Kwieciński H.
    Journal: Neurol Neurochir Pol; 2003; 37(3):713-20. PubMed ID: 14593764.
    Abstract:
    A sporadic case of a 31 year-old woman with genetically confirmed diagnosis of LHON was presented. Both her optic nerves were affected, with a 5-year interval between the onset in one eye and the loss of vision in the second one. Besides optic atrophy clinical and laboratory signs of multiple sclerosis were found. A review of the literature suggests that the G3460A mutation present in this case rarely coexists with a MS-like clinical phenotype.
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