Mitochondrial disorders

Abstract

The rate of advance of our understanding of mitochondrial pathology continues to accelerate. Trends in genotype-phenotype correlations in mitochondrial DNA mutations continue to be developed; the latest of these is the association of exercise intolerance with cytochrome b mutations and onset in infancy of multisystem disorders associated with cytochrome oxidase assembly defects. New models for mitochondrial disease are being developed. Drugs, toxins and deficiency of nuclear encoded proteins that are targeted at mitochondria are now recognized as important causes of secondary mitochondrial respiratory chain deficiency.