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Antenatal manifestations of mitochondrial respiratory chain deficiency

✍ Scribed by Jürgen-Christoph von Kleist-Retzow; Valérie Cormier-Daire; Géraldine Viot; Alice Goldenberg; Becky Mardach; Jeanne Amiel; Philippe Saada; Yves Dumez; Francis Brunelle; Jean-Marie Saudubray; Dominique Chrétien; Agnès Rötig; Pierre Rustin; Arnold Munnich; Pascale De Lonlay

Book ID
117849801
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
97 KB
Volume
143
Category
Article
ISSN
1097-6833

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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