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

A 13‐year‐old girl with non‐familial exercise intolerance, muscle pain and lactic acidaemia underwent a muscle biopsy for suspected mitochondrial disease. Muscle morphology showed 25% ragged‐red fibres and 80% COX‐negative staining. Enzymatic activities of mitochondrially co‐encoded respiratory chai...

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Veröffentlicht in:	Journal of inherited metabolic disease 2003-09, Vol.26 (6), p.593-600
Hauptverfasser:	Grafakou, O., Hol, F. A., Otfried Schwab, K., Siers, M. H., Ter Laak, H., Trijbels, F., Ensenauer, R., Boelen, C., Smeitink, J.
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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