Prenatal diagnosis by amniocentesis and chorionic villus biopsy of mtDNA mutation 8993T > G

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Leigh syndrome resulting from de novo mutation at position 8993 of mitochodrial DNA

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Genotype–phenotype correlation in the 5703G>A mutation in the tRNA^Asn gene of mitochondrial DNA

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Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

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