[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.