Article
A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance.
Neurology - 1 Jun 1998
Vissing J, Salamon M B, Arlien-Søborg P, Nørby S, Manta P, DiMauro S, Schmalbruch H
Abstract excerpt
A 30-year-old woman with a novel heteroplasmic U4409C mtDNA mutation in the tRNA(Met) 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...
Topics
- Adult
- Base Sequence
- Cardiovascular System
- DNA, Mitochondrial
- Exercise Tolerance
- Female
- Humans
- Molecular Sequence Data
- Molecular Structure
- Muscles
- Muscular Dystrophies
- Mutation
- Nervous System
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length