| Autor: |
Shepherd IM; Department of Neurology, University of Newcastle upon Tyne, U.K., Birch-Machin MA, Johnson MA, Sherratt HS, Aynsley-Green A, Droste M, Kadenbach B, Stephenson JB, King MD, Dick DJ, et. al. |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of the neurological sciences [J Neurol Sci] 1988 Nov; Vol. 87 (2-3), pp. 265-74. |
| DOI: |
10.1016/0022-510x(88)90251-1 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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