A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance

J Vissing; M B Salamon; P Arlien-Søborg; S Nørby; P Manta; S DiMauro; H Schmalbruch

doi:10.1212/wnl.50.6.1875

A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance

Neurology. 1998 Jun;50(6):1875-8. doi: 10.1212/wnl.50.6.1875.

Authors

J Vissing¹, M B Salamon, P Arlien-Søborg, S Nørby, P Manta, S DiMauro, H Schmalbruch

Affiliation

¹ Department of Neurology, Copenhagen Muscle Research Center, Rigshospitalet, University of Copenhagen, Denmark.

PMID: 9633749
DOI: 10.1212/wnl.50.6.1875

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

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*

Substances

DNA, Mitochondrial
RNA, Mitochondrial
RNA, Transfer, Met
RNA