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- W2067236474 endingPage "992" @default.
- W2067236474 startingPage "985" @default.
- W2067236474 abstract "Over two decades have elapsed since the first mtDNA point mutation was associated with Leber's hereditary optic neuropathy (LHON) in 1988. We have subsequently witnessed a substantial understanding of the molecular basis of hereditary optic neuropathies, as well as of their clinical features and pathogenic mechanisms. It became clear that the large majority of genetic optic neuropathies have a primary or an indirect involvement of mitochondrial functions, justifying the definition of mitochondrial optic neuropathies. Despite this progress many unsolved features remain to be understood, such as incomplete penetrance and variable clinical expressivity in LHON and dominant optic atrophy (DOA), gender prevalence in LHON, and complex gene/environment interactions in both LHON and DOA. The most recent advancement in our understanding of the molecular basis of mitochondrial optic neuropathies is the topic of this review. In particular, we analyze the role that mitochondrial biogenesis may play in the compensatory mechanisms that underlie incomplete penetrance and clinical expressivity, a scenario relevant for the possible design of future therapeutic approaches." @default.
- W2067236474 created "2016-06-24" @default.
- W2067236474 creator A5030951548 @default.
- W2067236474 creator A5042048028 @default.
- W2067236474 creator A5048398288 @default.
- W2067236474 creator A5056579297 @default.
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- W2067236474 creator A5070622522 @default.
- W2067236474 creator A5075326896 @default.
- W2067236474 creator A5075732396 @default.
- W2067236474 date "2014-10-13" @default.
- W2067236474 modified "2023-09-23" @default.
- W2067236474 title "Genetic Basis of Mitochondrial Optic Neuropathies" @default.
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