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Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN)gene

✍ Scribed by O. Grafakou; F. A. Hol; K. Otfried Schwab; M. H. Siers; H. Ter Laak; F. Trijbels; R. Ensenauer; C. Boelen; J. Smeitink


Book ID
111554793
Publisher
Springer
Year
2003
Tongue
English
Weight
98 KB
Volume
26
Category
Article
ISSN
0141-8955

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Progressive exercise intolerance associa
✍ Claudio Bruno; Filippo M. Santorelli; Stefania Assereto; Emmanuel Tonoli; Alessa πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 129 KB

## Abstract We report a novel nonsense mitochondrial cytochrome __b__ mutation (G15170A) in a 40‐year‐old woman with progressive exercise intolerance and lactic acidosis. Muscle biopsy showed several cytochrome __c__ oxidase–positive ragged‐red fibers, and reduced activities of respiratory chain co