title: The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Eszter
authors.initials: E
authors.lastname: Dombi
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Alan
authors.initials: A
authors.lastname: Diot
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Karl
authors.initials: K
authors.lastname: Morten
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Janet
authors.initials: J
authors.lastname: Carver
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Tiffany
authors.initials: T
authors.lastname: Lodge
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Carl
authors.initials: C
authors.lastname: Fratter
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Yi Shiau
authors.initials: YS
authors.lastname: Ng
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Chunyan
authors.initials: C
authors.lastname: Liao
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Muir
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Emma L
authors.initials: EL
authors.lastname: Blakely
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Iain
authors.initials: I
authors.lastname: Hargreaves
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Mazhor
authors.initials: M
authors.lastname: Al-Dosary
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Gopa
authors.initials: G
authors.lastname: Sarkar
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Simon J
authors.initials: SJ
authors.lastname: Hickman
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Susan M
authors.initials: SM
authors.lastname: Downes
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Sandeep
authors.initials: S
authors.lastname: Jayawant
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Patrick
authors.initials: P
authors.lastname: Yu-Wai-Man
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK.
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.affiliation: From the University of Oxford (E.D., A.D., K.M., J.C., T.L., C.L., R.M., S.M.D., J.P.); Churchill Hospital (C.F.), Oxford; Newcastle University (Y.S.N., E.L.B., M.A.-D., P.Y.-W.-M., R.W.T.), Newcastle upon Tyne; National Hospital for Neurology and Neurosurgery (I.H.), UCLH, Queen Square, London; Stoke Mandeville Hospital (G.S.), Aylesbury; Royal Hallamshire Hospital (S.J.H.), Sheffield; John Radcliffe Hospital (S.J.), Oxford; Royal Victoria Infirmary (P.Y.-W.-M.), Newcastle upon Tyne; and Moorfields Eye Hospital and UCL Institute of Ophthalmology (P.Y.-W.-M.), London, UK. joanna.poulton@obs-gyn.ox.ac.uk.
authors.forename: Joanna
authors.initials: J
authors.lastname: Poulton
mesh_terms: D000140:Acidosis, Lactic / Q000378:metabolism / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000975:Antioxidants / Q000494:pharmacology; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000187:drug effects / Q000378:metabolism / Q000502:physiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007888:Leigh Disease / Q000378:metabolism / Q000473:pathology; D008297:Male; D008869:Microtubule-Associated Proteins / Q000378:metabolism; D008875:Middle Aged; D063154:Mitochondrial Dynamics / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins / Q000378:metabolism; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; D063306:Mitophagy / Q000187:drug effects / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009462:Neurology; D014451:Ubiquinone / Q000031:analogs & derivatives / Q000494:pharmacology; D055815:Young Adult
chemical_list: D000975:Antioxidants; D004272:DNA, Mitochondrial; C477012:MAP1LC3A protein, human; D008869:Microtubule-Associated Proteins; D033681:Mitochondrial Membrane Transport Proteins; D000090622:Mitochondrial Precursor Protein Import Complex Proteins; C489971:TOMM22 protein, human; D014451:Ubiquinone; C036619:idebenone