Article
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Brain : a journal of neurology - 1 May 2014
Pfeffer Gerald, Gorman Gráinne S, Griffin Helen, Kurzawa-Akanbi Marzena, Blakely Emma L, Wilson Ian, Sitarz Kamil, Moore David, Murphy Julie L, Alston Charlotte L, Pyle Angela, Coxhead Jon, Payne Brendan, Gorrie George H, Longman Cheryl, Hadjivassiliou Marios, McConville John, Dick David, Imam Ibrahim, Hilton David, Norwood Fiona, Baker Mark R, Jaiser Stephan R, Yu-Wai-Man Patrick, Farrell Michael, McCarthy Allan, Lynch Timothy, McFarland Robert, Schaefer Andrew M, Turnbull Douglass M, Horvath Rita, Taylor Robert W, Chinnery Patrick F
Abstract excerpt
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...
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