European Journal of Pediatrics 1984-Jan
Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency.
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Abstract
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 oxydase activity was strongly reduced. The content of cytochromes b and aa3 was very low. At autopsy a cardiomyopathy was found.