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  • Articles: DFG German National Licenses  (2)
  • 1990-1994  (2)
  • Cytochrome c oxidase  (1)
  • Medium-chain acyl-CoA dehydrogenase deficiency  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Mosaicism of mitochondria in mitochondrial myopathy: an electronmicroscopic analysis of cytochrome c oxidase (1990)
    Springer
    Acta neuropathologica 80 (1990), S. 642-648 
    Details
    ISSN: 1432-0533
    Keywords: Mitochondrial myopathy ; Cytochrome c oxidase ; Mosaicism of mitochondria ; Electron microscopic histochemistry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Electron microscopic histochemistry was applied to the study of cytochrome c oxidase activity in each mitochondrion of biopsied muscles from four patients with mitochondrial myopathy [one case of fatal infantile mitochondrial myopathy, one case of myoclonus epilepsy associated with ragged-red fibers (MERRF), and two cases of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)]. In the patient with fatal infantile mitochondrial myopathy, intercellular heterogeneity of mitochondria was recognized. In the three patients with either MERRF or MELAS, cytochrome c oxidase activity was segmentally changed from positive to negative within single muscle fibers. In the two patients with MELAS, small groups of positive-stained mitochondria were located among negative-stained mitochondria in the negative segment of a few muscle fibers. These findings revealed that there were heterogeneous populations of normal and abnormal mitochondria intracellularly or intercellularly within the muscles of these patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00307633
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspects (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 154-159 
    Details
    ISSN: 1432-1076
    Keywords: Medium-chain acyl-CoA dehydrogenase deficiency ; Sudden infant death ; Reye syndrome ; Mass screening ; DNA diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder which is known to cause Reye-like syndrome in children and sudden infant death. A point mutation of lysine329-to-glutamic acid329 substitution in the MCAD gene was recently identified as the most common mutation in patients with MCAD deficiency. This mutation is responsible for about 90% of mutant MCAD alleles in Caucasians. Patients with this type of mutation have a variety of symptoms, indicating that the clinical heterogeneity of MCAD deficiency may not be caused entirely by genetic heterogeneity. Screening for the mutation among newborns in England, Australia, and United States of America indicates the prevalence of carriers to be 1 in 40–107, suggesting the high incidence of the mutation. Since presymptomatic diagnosis and appropriate dietary management are important in MCAD deficiency to prevent life-threatening complications, the relatively high incidence of this disorder may warrant population screening. The most common MCAD mutation can now be detected by DNA diagnostic methods using Guthrie cards. This makes it possible to screen a population efficiently for this potentially fatal disorder.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01954373
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    Paper (German National Licenses)
    Fulltext
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