Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

@article{Spinazzi2011OptimizationOR,
  title={Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.},
  author={Marco Spinazzi and Alberto Casarin and Vanessa Pertegato and M. Ermani and Leonardo Salviati and Corrado Angelini},
  journal={Mitochondrion},
  year={2011},
  volume={11 6},
  pages={
          893-904
        }
}
The diagnosis of mitochondrial disorders is difficult due to clinical and genetic heterogeneity. Measurements of mitochondrial respiratory chain (RC) enzyme activities are essential for both clinical diagnoses and many basic research questions. Current protocols for RC analysis are not standardized, and so are prone to inter-laboratory variability, and also to biochemical interferences that lead to analytical discrepancies. Moreover, knowledge of the analytical performances of these assays… CONTINUE READING
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