Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia.

@article{Lodi1999DeficitOI,
  title={Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia.},
  author={Raffaele Lodi and Jacqueline Cooper and Jane L. Bradley and David Manners and Peter Styles and D. J. E. Taylor and Anthony H V Schapira},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1999},
  volume={96 20},
  pages={11492-5}
}
Friedreich ataxia (FRDA), the most common of the inherited ataxias, is an autosomal recessive degenerative disorder, characterized clinically by onset before the age of 25 of progressive gait and limb ataxia, absence of deep tendon reflexes, extensor plantar responses, and loss of position and vibration sense in the lower limbs. FRDA is caused by a GAA triplet expansion in the first intron of the FRDA gene on chromosome 9q13 in 97% of patients. The FRDA gene encodes a widely expressed 210-aa… CONTINUE READING

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Lodi et al

  • P. K. Thomas, J. M. Cooper, +5 authors 451–461. Medical Sciences
  • Proc. Natl. Acad. Sci. USA 96
  • 1999

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