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  • Molecular assay reagents intended to identify mutations in the mitochondrially encoded ATP synthase 6 (MT-ATP6) gene, located in the mitochondrial genome, which encodes for a protein that is essential for normal mitochondrial function. Mutations at this locus have been identified in patients with mitochondrial disorders, including mitochondrial DNA associated Leigh syndrome; neurogenic muscle weakness; ataxia; and neuropathy, ataxia, and retinitis pigmentosa (NARP).
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