pediatrics
Mitochondrial Oxidative Phosphorylation Disorders
Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
Mutations in the mitochondrialtRNAleugene cause this progressive neurodegenerative disease characterized by repeated episodes of “chemical (metabolic) strokes,” myopathy, and lactic acidosis. In many cases, cells contain both wild-type and mutant mitochondrial DNA (heteroplasmy); thus, expression is variable. 