Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA

@article{Karadimas2000RecurrentMD,
  title={Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA},
  author={Charalampos L Karadimas and Penny Greenstein and Carolyn M. Sue and Jeffrey T. Joseph and Kurenai Tanji and Ronald G Haller and Tanja Taivassalo and Mercy M. Davidson and Sara Shanske and Eduardo Bonilla and Salvatore Dimauro},
  journal={Neurology},
  year={2000},
  volume={55},
  pages={644 - 649}
}
Objective: To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle. Background: Recurrent myoglobinuria is typically seen in patients with inborn errors of carbohydrate or lipid metabolism, the main sources of energy for muscle contraction. Relatively little attention has been directed to defects of the mitochondrial respiratory chain in patients with otherwise unexplained recurrent myoglobinuria… 

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