A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues

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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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Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease

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