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Clinical aspects of mitochondrial disorders

✍ Scribed by A. Munnich; P. Rustin; A. Rötig; D. Chretien; J.-P. Bonnefont; C. Nuttin; V. Cormier; A. Vassault; P. Parvy; J. Bardet; C. Charpentier; D. Rabier; J.-M. Saudubray


Publisher
Springer
Year
1992
Tongue
English
Weight
600 KB
Volume
15
Category
Article
ISSN
0141-8955

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The clinical identification of patients with defects in the mitochondrial respiratory chain is almost impossible. We describe screening tests that should be performed in order to select those patients in whom a skeletal muscle biopsy should be carried out for more specific biochemical assays. The im