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The results revealed a significant reduction in mitochondrial oxidative phosphorylation activity at complexes I and II in GWS patients compared to healthy controls

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LCA10 is a severe form of retinal dystrophy caused by an adenine to guanine point mutation within intron 26 of the human CEP290 gene (IVS26)resulting in the inclusion of a cryptic exon and a premature stop codon [62]

PMID: 30225713