Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.

@article{Carelli2002BiochemicalclinicalCI,
  title={Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.},
  author={V Carelli and Alessandra Baracca and Silvia Barogi and Francesco Pallotti and M L Valentino and Pasquale Montagna and Massimo Zeviani and Antonella Pini and Giorgio Lenaz and Agostino Baruzzi and Giancarlo Solaini},
  journal={Archives of neurology},
  year={2002},
  volume={59 2},
  pages={264-70}
}
OBJECTIVE To investigate the correlation between biochemical and clinical phenotype in 6 patients from 3 unrelated families with different mutation loads (heteroplasmy) of the T8993G mitochondrial DNA mutation associated with neuropathy, ataxia, and retinitis pigmentosa-Leigh syndrome. METHODS We studied adenosine triphosphate (ATP) synthase activity (synthesis and hydrolysis) in platelet-derived submitochondrial particles and assessed mutant loads both in platelets used for biochemical… CONTINUE READING

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