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  • muscle  (2)
  • Springer  (2)
  • Nature Publishing Group (NPG)
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  • Springer  (2)
  • Nature Publishing Group (NPG)
  • Elsevier  (5)
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  • 1
    Electronic Resource
    Electronic Resource
    Mitochondrial encephalomyopathies: Clinical and molecular analysis (1994)
    Springer
    Journal of bioenergetics and biomembranes 26 (1994), S. 291-299 
    Details
    ISSN: 1573-6881
    Keywords: Brain ; KSS ; Leigh ; LHON ; maternal inheritance ; MELAS ; MERRF ; mitochondrial DNA ; muscle ; NARP ; oxidative phosphorylation ; PEO ; respiratory chain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract The classification of mitochondrial encephalomyopathies relied upon clinical, biochemical, and histological features until the discovery of mitochondrial DNA defects in 1988. Since then, an outburst of molecular genetic information has aided our understanding of the pathogenesis and the classification of these heterogeneous disorders. Novel concepts of maternal inheritance, mitochondrial DNA (mtDNA) heteroplasmy, tissue distribution, and threshold have explained many of the clinical characteristics. The discovery of point mutations, large-scale mtDNA deletions, duplications, and autosomally inherited disorders with multiple mtDNA deletions have revealed new genetic phenomena. Despite our rapidly expanding understanding of the molecular genetic defects, many questions remain to be explored to fill the gap in our knowledge of the relationship between genotype and clinical phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00763100
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  • 2
    Electronic Resource
    Electronic Resource
    Mitochondrial DNA Mutations and Pathogenesis (1997)
    Springer
    Journal of bioenergetics and biomembranes 29 (1997), S. 131-149 
    Details
    ISSN: 1573-6881
    Keywords: ATP ; cardiopathy ; deafness ; diabetes ; encephalomyopathy ; KSS ; Leigh ; LHON ; maternal inheritance ; MELAS ; MERRF ; mitochondrial DNA ; muscle ; MILS ; myopathy ; NARP ; oxidative phosphorylation ; PEO ; respiratory chain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract Approximately three years ago, this journal published a review on the clinical and molecular analysis of mitochondrial encephalomyopathies, with emphasis on defects in mitochondrial DNA (mtDNA). At that time, approximately 30 point mutations associated with a variety of maternally-inherited (or rarely, sporadic) disorders had been described. Since that time, almost twenty new pathogenic mtDNA point mutations have been described, and the pace of discovery of such mutations shows no signs of abating. This accumulating body of data has begun to reveal some patterns that may be relevant to pathogenesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1022685929755
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    Paper (German National Licenses)
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