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- W2048965827 abstract "Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both non-syndromic optic neuropathies with a mitochondrial etiology. LHON is associated with point mutations in the mitochondrial DNA (mtDNA), which affect subunit genes of complex I. The majority of DOA patients harbor mutations in the nuclear-encoded protein OPA1, which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics. In both disorders the retinal ganglion cells (RGCs) are specific cellular targets of the degenerative process. We here review the clinical features and the genetic bases, and delineate the possible common pathomechanism for both these disorders." @default.
- W2048965827 created "2016-06-24" @default.
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- W2048965827 date "2007-06-13" @default.
- W2048965827 modified "2023-10-17" @default.
- W2048965827 title "Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?" @default.
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- W2048965827 doi "https://doi.org/10.1007/s10540-007-9045-0" @default.
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