A new point mutation associated with mitochondrial encephalomyopathy

Point mutations In the mitochondrlal gene tRNA leucine(UUR) have been associated with maternally Inherited mItochondrlal myopathies Including the MELAS syndrome (Mitochondrial Myopathy Encephalopathy Lactic acIdosis and Stroke-like episodes). We describe a further mutation in tRNA leucine(UUR) in a patient with mItochondrlal encephalomyopathy, pigmentary retinopathy, dementia, hypoparathyroidism and diabetes mellltus. The mutation was heteroplasmic In the proband's blood (30%) and muscle (76%); It was present at high levels in the proband's affected mother (50% In muscle), and at low levels (