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  • Molecular assay reagents intended to identify mitochondrial deletions in the progressive external ophthalmoplegia 1 (PEO1) gene, located in 10q23.3-24.3, that is involved in mitochondrial DNA (mtDNA) metabolism. The gene could function as an adenine nucleotide-dependent DNA helicase; its function is considered critical for lifetime maintenance of mtDNA integrity. Maternally inherited genetic mitochondrial deletions are usually confined to the skeletal muscles of patients with PEO1.
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