A new mitochondrial tRNAMet gene mutation in a patient with dystrophic muscle and exercise intolerance

A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNAMet gene presented with growth retardation, muscle weakness, severe exercise intolerance, and lactic acidosis. Muscle biopsy showed unusually severe dystrophic features. The mutation was not present in maternal relatives or 25 healthy subjects. Single-fiber PCR-RFLP analysis of mtDNA showed higher proportion of the mutation in COX-negative than in COX-positive muscle fibers.