A new mitochondrial tRNA(Met) 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 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 relativ...

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Bibliographic Details
Published inNeurology Vol. 50; no. 6; p. 1875
Main Authors Vissing, J, Salamon, M B, Arlien-Søborg, P, Nørby, S, Manta, P, DiMauro, S, Schmalbruch, H
Format Journal Article
LanguageEnglish
Published United States 01.06.1998
Subjects
Adult
Base Sequence
Cardiovascular System - physiopathology
DNA, Mitochondrial - genetics
Exercise Tolerance - physiology
Female
Humans
Molecular Sequence Data
Molecular Structure
Muscles - pathology
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Muscular Dystrophies - physiopathology
Mutation - genetics
Nervous System - physiopathology
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
RNA - genetics
RNA, Mitochondrial
RNA, Transfer, Met - genetics
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Summary: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 COX-negative than in COX-positive muscle fibers.
ISSN:0028-3878
1526-632X
DOI:10.1212/WNL.50.6.1875