Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.

@article{Tay2005UnusualCP,
  title={Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.},
  author={Stacey Kiat Hong Tay and Sabrina Sacconi and Hasan O Akman and Judith F Morales and Augusto A. Morales and Darryl C. De Vivo and Sara Shanske and Eduardo Bonilla and Salvatore Dimauro},
  journal={Journal of child neurology},
  year={2005},
  volume={20 8},
  pages={670-4}
}
Mutations in the SURF1 gene are the most frequent causes of Leigh disease with cytochrome c oxidase deficiency. We describe four children with novel SURF1 mutations and unusual features: three had prominent renal symptoms and one had ragged red fibers in the muscle biopsy. We identified five pathogenic mutations in SURF1: two mutations were novel, an in-frame nonsense mutation (834G-->A) and an out-of-frame duplication (820-824dupTACAT). Although renal manifestations have not been described in… CONTINUE READING

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