Cytochrome c oxidase deficiency
β Scribed by Shoubridge, Eric A.
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 124 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
Different severe disorders of cytochrome c oxidase (COX) have been described in children, but only the defects with autosomal inheritance are suitable for prenatal diagnosis. To perform prenatal diagnosis of fatal infantile COX deficiency a complex approach has been used which combined determination
In an attempt to elucidate the pathogenesis of focal cytochrome c-oxidase (COX) deficiency in skeletal muscle from patients with chronic progressive external ophthalmoplegia (CPEO), we examined the longitudinal distribution of COX activity in single muscle fibers from 6 CPEO patients with muscle mit