Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.

@article{Jaksch2000MutationsIS,
  title={Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.},
  author={M. Jaksch and Isla M Ogilvie and Jianbo Yao and G Kortenhaus and H G Bresser and K. D. Gerbitz and Eric A Shoubridge},
  journal={Human molecular genetics},
  year={2000},
  volume={9 5},
  pages={795-801}
}
Mutations in SCO2, a cytochrome c oxidase (COX) assembly gene located on chromosome 22, have recently been reported in patients with fatal infantile cardio-encephalomyopathy and severe COX deficiency in heart and skeletal muscle. The Sco2 protein is thought to function as a copper chaperone. To investigate the extent to which mutations in SCO2 are responsible for this phenotype, a complete sequence analysis of the gene was performed on ten patients in nine families. Mutations in SCO2 were found… CONTINUE READING
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