Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a …
R Sakuta, Y Goto, S Horai, I Nonaka - Journal of the neurological sciences, 1993 - Elsevier
Of 50 patients with the clinical characteristics of mitochondrial myopathy, encephalopathy,
lactic acidosis, and stroke-like episodes (MELAS), 38 had a point mutation at nucleotide
position (nt) 3243 in the tRNA Leu (UUR) region in mitochondrial DNA and 6 at nt 3271 in
the same tRNA Leu (UUR) gene. Except for the later onset of the disease in the patients with
the 3271 mutation, there were no clinical, biochemical and pathological differences between
the two groups. Since the nt 3271 region is not located in the binding site for mitochondrial …
lactic acidosis, and stroke-like episodes (MELAS), 38 had a point mutation at nucleotide
position (nt) 3243 in the tRNA Leu (UUR) region in mitochondrial DNA and 6 at nt 3271 in
the same tRNA Leu (UUR) gene. Except for the later onset of the disease in the patients with
the 3271 mutation, there were no clinical, biochemical and pathological differences between
the two groups. Since the nt 3271 region is not located in the binding site for mitochondrial …