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  • 1
    Electronic Resource
    Electronic Resource
    An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 428-432 
    Details
    ISSN: 1432-1076
    Keywords: Marfan ; NADH-coenzyme Q reductase ; Lactic acidosis ; Respiratory chain ; Mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities. The presence of persistent lactic acidosis led to studies which disclosed mitochondrial complex I deficiency. We speculate that this unusual association may be due to the combination of an inherited mutation affecting complex I activity along with a de novo mutation disrupting the corresponding locus and an adjacent NMS locus on the homologous autosome. The possibility that the phenotype observed in this patient is directly due to the mitochondrial defect cannot be excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955904
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    MtDNA and nuclear mutations affecting oxidative phosphorylation: Correlating severity of clinical defect with extent of bioenergetic compromise (1994)
    Springer
    Journal of bioenergetics and biomembranes 26 (1994), S. 311-316 
    Details
    ISSN: 1573-6881
    Keywords: ATP synthesis ; mtDNA ; complex I ; complex IV ; complex V
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract Rates of ATP synthesis were studied in cultured skin fibroblasts treated with digitonin. In fibroblasts from patients with complex I deficiency, complex IV and complex V deficiency rates of ATP synthesis were decreased below the levels found in controls. In mitochondria isolated from cultured lymphoblasts, ATP synthesis was also decreased by 35–50% in cases of Leigh's disease due to complex I, complex IV, or complex V deficiency. Calculating the effect of the mutations in the various complexes on the overall efficiency of oxidative phosphorylation, we show that the mtDNA 8993 mutation which affects the activity of the F1F0 ATPase (complex V) has the strongest effect.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00763102
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    Paper (German National Licenses)
    Fulltext
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