Abstract:SUELY KAZUE NAGAHASHI MARIE** Mitochondrial disorders are a heterogeneous group of diseases characterized by the dysfunction of the oxidative phosphorilation. As the protein complexes of the respiratory chain are coded by both nuclear and mitochondrial genomes, there are additional difficulties on the clinical and diagnostic approaches to those disorders. The RRF detected on muscle biopsy, a hallmark of mitochondrial proliferation, is not always present on those conditions, neither is the increase of lactic ac… Show more
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