[Leigh's syndrome and mitochondrial myopathy].
Leigh's syndrome is a subacute encephalopathy with characteristic pathological features and lactic acidosis. This syndrome is due to the disturbance of aerobic metabolism. Pyruvate dehydrogenase deficiency and cytochrome c oxidase deficiency are common metabolic disturbances in this syndrome. Complex I or II deficiency has also been claimed. Recently, mutations of mitochondrial genome have been also identified in some cases with Leigh's syndrome: np 3243 T to C, np 8344 G to A and np 8993 T to G. The possible correlation between phenotype and genotype in this heterogeneous syndrome was discussed.
Nakase
H
H
Department of Neurology, Toranomon Hospital.
D030401:Cytochrome-c Oxidase Deficiency; D004272:DNA, Mitochondrial / Q000235:genetics*; D015894:Genome, Human; D006801:Humans; D007888:Leigh Disease / Q000209:etiology / Q000235:genetics*; D009154:Mutation; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease
D004272:DNA, Mitochondrial