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A Mitochondrial Myopathy in an Infant with Lactic Acidosis

✍ Scribed by Verena Griebel; Ingeborg Krägeloh-Mann; Dr. W. Ruitenbeek; Prof. Dr. J. M. F. Trijbels; W. Paulus


Book ID
115265676
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
365 KB
Volume
32
Category
Article
ISSN
0012-1622

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A 34-year-old man affected by exercise intolerance, mild proximal weakness and severe lactic acidosis is described. Muscle biopsy revealed mitochondrial abnormalities and an increase of cytochrome c oxidase histochemical reaction. Biochemical investigations on isolated muscle mitochondria as well as