Mitochondrial disorders of the nuclear genome.

  title={Mitochondrial disorders of the nuclear genome.},
  author={Corrado I. Angelini and Luca Bello and Marco Spinazzi and Chiara Ferrati},
  journal={Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology},
  volume={28 1},
BACKGROUND Mitochondrial myopathies are regulated by two genomes: the nuclear DNA, and the mitochondrial DNA. While, so far, most studies have dealt with mitochondrial myopathies due to deletions or point mutations in the mitochondrial DNA, a new field of investigation is that of syndromes due to mutations in the nuclear DNA. These latter disorders have mendelian inheritance. RESULTS Three representative cases have been selected: one with COX deficiency and a Leigh syndrome due to a SURF1… CONTINUE READING


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