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

Brain

Volumn 137, Issue 5, 2014, Pages 1323-1336

  Pfeffer, Gerald ^a,b   Gorman, Gráinne S ^a,b   Griffin, Helen ^a,b   Kurzawa Akanbi, Marzena ^a,b   Blakely, Emma L ^a,b   Wilson, Ian ^a,b   Sitarz, Kamil ^a,b   Moore, David ^a,b   Murphy, Julie L ^a,b   Alston, Charlotte L ^a,b   Pyle, Angela ^a,b   Coxhead, Jon ^a,b   Payne, Brendan ^a,b   Gorrie, George H ^c   Longman, Cheryl ^c   Hadjivassiliou, Marios ^d   McConville, John ^e   Dick, David ^f   Imam, Ibrahim ^g   Hilton, David ^g   Norwood, Fiona ^h   Baker, Mark R ⁱ   Jaiser, Stephan R ⁱ   Yu Wai Man, Patrick ^a,b,j   Farrell, Michael ^k   McCarthy, Michael ^l   Lynch, Timothy ^l   McFarland, Robert ^a,b   Schaefer, Andrew M ^a,b   Turnbull, Douglass M ^a,b   Horvath, Rita ^a,b   Taylor, Robert W ^a,b   Chinnery, Patrick F ^a,b   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF SHEFFIELD   (United Kingdom)

^e BELFAST CITY HOSPITAL   (United Kingdom)

^f NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^g TORBAY HOSPITAL   (United Kingdom)

^h KING S COLLEGE HOSPITAL   (United Kingdom)

ⁱ NEWCASTLE UNIVERSITY   (United Kingdom)

^j ROYAL VICTORIA INFIRMARY   (United Kingdom)

^k BEAUMONT HOSPITAL   (Ireland)

^l UNIVERSITY COLLEGE DUBLIN   (Ireland)

more..

Author keywords

chronic progressive external ophthalmoplegia; hereditary spastic paraplegia; mtDNA maintenance; paraplegin; SPG7

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN DERIVATIVE; SPG7 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ATAXIA; BIOGENESIS; CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; CLINICAL ARTICLE; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA DETERMINATION; DYSPHAGIA; EXON; FIBROBLAST; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MIDDLE AGED; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEOMICS; PTOSIS; SPASTICITY; VERY ELDERLY;

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA; HEREDITARY SPASTIC PARAPLEGIA; MTDNA MAINTENANCE; PARAPLEGIN; SPG7;

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;

EID: 84899863857     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awu060     Document Type: Article

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