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Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency

✍ Scribed by J-P. Harpey; D. Heron; M. Prudent; C. Charpentier; P. Rustin; G. Ponsot; V. Cormier-Daire

Book ID
110225292
Publisher
Springer
Year
1998
Tongue
English
Weight
62 KB
Volume
21
Category
Article
ISSN
0141-8955

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Deficiency of cytochromes b and aa3in mu
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✍ R. C. A. Sengers; J. M. F. Trijbels; J. A. J. M. Bakkeren; W. Ruitenbeek; J. C. πŸ“‚ Article πŸ“… 1984 πŸ› Springer 🌐 English βš– 986 KB

A girl was presented suffering from generalised weakness and cardiorespiratory insufficiency. She succumbed at the age of 5 months. Lactate levels were elevated in serum, cerebrospinal fluid and urine. Histopathological examination revealed a mitochondrial myopathy. In muscle tissue the cytochrome o