Mitochondrial myopathies

@article{Zeviani1985MitochondrialM,
  title={Mitochondrial myopathies},
  author={Massimo Zeviani and Patrizia Amati and Anna Savoia},
  journal={Current Opinion in Rheumatology},
  year={1985},
  volume={6},
  pages={559–567}
}
Major new advances in the genetic and biochemical characterization of mitochondrial myopathies are discussed, within a general presentation of this important new area of human pathology. Mitochondrial disorders can be due to mutations in either nuclear or mitochondrial genes involved in the synthesis of individual respiratory chain subunits or in their posttranslational control. Although no mutations of nuclear-encoded oxidative phosphorylation subunits have been reported so far in humans… 
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References

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              This paper describes mutations in MPV17, a gene encoding a protein of the inner mitochondrial membrane, which, when mutated, causes hepatocerebral mtDNA depletion