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Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: A study of 31 patients

✍ Scribed by Angels Garcia-Cazorla; Pascale De Lonlay; Pierre Rustin; Dominique Chretien; Guy Touati; Daniel Rabier; Abdel Slama; Jean Marie Saudubray


Book ID
116684053
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
196 KB
Volume
149
Category
Article
ISSN
1097-6833

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Respiratory chain enzymes were studied in isolated mitochondria of two patients with mitochondrial myopathy. Both patients had been suffering from chronic progressive external ophthalmoplegia and abnormal muscular fatigability since late childhood. One of the patients exhibited the complete triad of