Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

@inproceedings{Pfeffer2014MutationsIT,
  title={Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance},
  author={Gerald Pfeffer and Gr{\'a}inne S. Gorman and Helen R. Griffin and Marzena Kurzawa-Akanbi and Emma L. Blakely and Ian J. Wilson and Kamil S. Sitarz and David G. Moore and Julie L. Murphy and Charlotte L. Alston and Angela Pyle and Jon Coxhead and Bai Payne and George H. Gorrie and Cheryl Longman and Marios Hadjivassiliou and John McConville and David J Dick and Ibrahim Imam and David Hilton and Fiona L M Norwood and Mark R. Baker and Stephan R. Jaiser and Patrick Yu-Wai-Man and Michael O. Farrell and Allan McCarthy and Timothy Lynch and Robert McFarland and Andrew M. Schaefer and Douglass Matthew Turnbull and Rita Horvath and Robert W Taylor and Patrick F. Chinnery},
  booktitle={Brain : a journal of neurology},
  year={2014}
}
Despite being a canonical presenting feature of mitochondrial disease, the genetic basis of progressive external ophthalmoplegia remains unknown in a large proportion of patients. Here we show that mutations in SPG7 are a novel cause of progressive external ophthalmoplegia associated with multiple mitochondrial DNA deletions. After excluding known causes, whole exome sequencing, targeted Sanger sequencing and multiplex ligation-dependent probe amplification analysis were used to study 68 adult… CONTINUE READING
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Compartment - specific perturbation of protein handling activates SPG 7related PEO and multiple mtDNA deletions

  • T Yoneda, C Benedetti, F Urano, SG Clark, HP Harding, D Ron
  • Brain
  • 2014

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