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  • 1
    Electronic Resource
    Electronic Resource
    A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 332-337 
    Details
    ISSN: 1432-1076
    Keywords: Myopathy ; Mitochondria ; Respiratory chain ; Succinate cytochrome c reductase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A boy presented suffering from generalised weakness, exercise intolerance and lactic acidosis. The weakness became evident at 2 years. A cerebral CT-scan showed cerebellar atrophy and central and peripheral atrophy of both hemispheres. With trichrome staining about 20% of the muscle fibres showed large areas containing redstaining granular material. Electron microscopic examination showed that this material consisted of areas of mitochondrial proliferation, most of the mitochondria having abnormal ultrastructural characteristics. Pyruvate dehydrogenase complex and citric acid cycle activities were determined by measuring 14CO2 production from various labelled substrates. Diminished oxidation rates were found with the patient's muscle homogenate for all substrates tested, indicating a defect in the respiratory chain. The cytochromes were present in normal quantities. Succinate cytochrome c reductase activity was very decreased. Carnitine concentration was decreased in serum and in muscle as well.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00442676
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q (1986)
    Springer
    European journal of pediatrics 144 (1986), S. 441-444 
    Details
    ISSN: 1432-1076
    Keywords: Myopathy ; Convulsions ; Mitochondria ; Respiratory chain ; Coenzyme Q
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441735
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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