Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant

Antzeko izenburuak

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• In vivo methylation of mtDNA reveals the dynamics of protein–mtDNA interactions
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• The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia
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• A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.
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