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

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.

OriginalsprogEngelsk
TidsskriftNeurology
Vol/bind50
Udgave nummer6
Sider (fra-til)1875-8
Antal sider4
ISSN0028-3878
DOI
StatusUdgivet - jun. 1998

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