Deficiency of cytochromes b and aa3 in muscle from a floppy infant with cytochrome oxidase deficiency
- 1 January 1984
- journal article
- case report
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 141 (3) , 178-180
- https://doi.org/10.1007/bf00443221
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.Keywords
This publication has 14 references indexed in Scilit:
- A mitochondrial myopathy with a defective respiratory chain and carnitine deficiencyEuropean Journal of Pediatrics, 1983
- A patient with lactic acidaemia and cytochrome oxidase deficiencyJournal of Inherited Metabolic Disease, 1983
- Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathyZeitschrift für Neurologie, 1982
- Cytochrome‐ c ‐oxidase deficiency in a floppy infantNeurology, 1982
- Mitochondrial myopathy with skeletal muscle cytochrome oxidase deficiencyJournal of Inherited Metabolic Disease, 1982
- Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiencyNeurology, 1980
- Pyruvate oxidation in rat and human skeletal muscle mitochondriaBiochemical Medicine, 1978
- Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimensBiochemical Medicine, 1978
- Hereditary Mitochondrial Myopathy with Lactic Acidemia, A DeToni-Fanconi-Debr?? Syndrome, and a Defective Respiratory Chain in Voluntary Striated MusclesPediatric Research, 1977
- A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafnessThe Journal of Pediatrics, 1975