Journal of the Neurological Sciences 1988-Nov
Cytochrome oxidase deficiency: immunological studies of skeletal muscle mitochondrial fractions.
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Sleutelwoorden
Abstract
We report a 2-year-old girl who presented with delayed development, weakness and persistent vomiting. She had a demyelinating peripheral neuropathy. The activity of cytochrome oxidase in skeletal muscle from the patient was 10% of controls. Immunochemical studies using antibodies to holo-cytochrome oxidase and the individual subunits showed a low concentration of all detectable subunits.
