The expanding clinical spectrum of mitochondrial diseases.

  title={The expanding clinical spectrum of mitochondrial diseases.},
  author={Darryl C. De Vivo},
  journal={Brain & development},
  volume={15 1},
The mitochondrion is the only extranuclear organelle containing DNA (mtDNA). As such, genetically determined mitochondrial diseases may result from a molecular defect involving the mitochondrial or the nuclear genome. The first is characterized by maternal inheritance and the second by Mendelian inheritance. Ragged-red fibers (RRF) are commonly seen with primary lesions of mtDNA, but this association is not invariant. Conversely, RRF are seldom associated with primary lesions of nuclear DNA… CONTINUE READING
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