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Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance.
Gerald Pfeffer, Gráinne S Gorman, Helen Griffin, Marzena Kurzawa-Akanbi, Emma L Blakely, Ian Wilson, Kamil Sitarz, David Moore, Julie L Murphy, Charlotte L Alston, Angela Pyle, Jon Coxhead, Brendan Payne, George H Gorrie, Cheryl Longman, Marios Hadjivassiliou, John McConville, David Dick, Ibrahim Imam, David Hilton, Fiona Norwood, Mark R Baker, Stephan R Jaiser, Patrick Yu-Wai-Man, Michael Farrell, Allan McCarthy, Timothy Lynch, Robert McFarland, Andrew M Schaefer, Douglass M Turnbull, Rita Horvath, Robert W Taylor, Patrick F Chinnery
Mar 07, 2019
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...
SPG7 chronic progressive external ophthalmoplegia hereditary spastic paraplegia mtDNA maintenance paraplegin ATPases Associated with Diverse Cellular Activities Aged Chronic Disease DNA Mutational Analysis DNA Mitochondrial Electric Stimulation Electron Transport Complex IV Evoked Potentials Motor Female Genetic Association Studies Humans Magnetic Resonance Imaging Male Metalloendopeptidases Middle Aged Mitochondrial Diseases Muscle Skeletal Mutation Ophthalmoplegia Chronic Progressive External Phenotype Reaction Time