Mitochondrial DNA T to G mutation 8993 in Leigh encephalopathy and organic aciduria - Ueno, M; Oka, A; Maegaki, Y; Toyoshima, M; Fujiwaki, T; Takeshita, K (No to hattatsu, 2001)
Keywords: DNA, Mitochondrial - genetics; Female; Humans; Infant; Ketoglutaric Acids - urine; Lactic Acid - urine; Leigh Disease - genetics; Leigh Disease - pathology; Leigh Disease - urine; Magnetic Resonance Imaging; Mutation; Pyruvic Acid - urine