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Molecular basis of ...
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
- Article/chapterEnglish2009
Publisher, publication year, extent ...
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2009-08-31
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Oxford University Press (OUP),2009
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/108124
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https://gup.ub.gu.se/publication/108124URI
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https://doi.org/10.1093/brain/awp221DOI
Supplementary language notes
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal outcome. However, a puzzling infantile disorder, long known as 'benign cytochrome c oxidase deficiency myopathy' is an exception because it shows spontaneous recovery if infants survive the first months of life. Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. Here we define the principal molecular basis of the disorder by identifying a maternally inherited, homoplasmic m.14674T>C mt-tRNA(Glu) mutation in 17 patients from 12 families. Our results provide functional evidence for the pathogenicity of the mutation and show that tissue-specific mechanisms downstream of tRNA(Glu) may explain the spontaneous recovery. This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Kemp, John P
(author)
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Tuppen, Helen A L
(author)
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Hudson, Gavin
(author)
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Oldfors, Anders,1951Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology(Swepub:gu)xoland
(author)
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Marie, Suely K N
(author)
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Moslemi, Ali-RezaGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology(Swepub:gu)xmosal
(author)
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Servidei, Serenella
(author)
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Holme, Elisabeth,1947Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine(Swepub:gu)xholme
(author)
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Shanske, Sara
(author)
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Kollberg, Gittan,1963Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine(Swepub:gu)xkolgi
(author)
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Jayakar, Parul
(author)
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Pyle, Angela
(author)
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Marks, Harold M
(author)
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Holinski-Feder, Elke
(author)
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Scavina, Mena
(author)
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Walter, Maggie C
(author)
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Coku, Jorida
(author)
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Günther-Scholz, Andrea
(author)
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Smith, Paul M
(author)
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McFarland, Robert
(author)
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Chrzanowska-Lightowlers, Zofia M A
(author)
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Lightowlers, Robert N
(author)
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Hirano, Michio
(author)
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Lochmüller, Hanns
(author)
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Taylor, Robert W
(author)
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Chinnery, Patrick F
(author)
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Tulinius, Mar,1953Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences(Swepub:gu)xtulim
(author)
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DiMauro, Salvatore
(author)
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Göteborgs universitetInstitutionen för biomedicin, avdelningen för patologi
(creator_code:org_t)
Related titles
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In:Brain : a journal of neurology: Oxford University Press (OUP)132:Pt 11, s. 3165-741460-2156
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In:Brain: Oxford University Press (OUP)132:Pt 11, s. 3165-740006-8950
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Horvath, Rita
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Kemp, John P
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Tuppen, Helen A ...
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Hudson, Gavin
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Oldfors, Anders, ...
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Marie, Suely K N
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Moslemi, Ali-Rez ...
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Servidei, Serene ...
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Holme, Elisabeth ...
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Shanske, Sara
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Kollberg, Gittan ...
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Jayakar, Parul
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Pyle, Angela
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Marks, Harold M
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Holinski-Feder, ...
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Scavina, Mena
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Walter, Maggie C
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Coku, Jorida
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Günther-Scholz, ...
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Smith, Paul M
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McFarland, Rober ...
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Chrzanowska-Ligh ...
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Lightowlers, Rob ...
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Hirano, Michio
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Lochmüller, Hann ...
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Taylor, Robert W
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Chinnery, Patric ...
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Tulinius, Mar, 1 ...
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DiMauro, Salvato ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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Brain : a journa ...
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Brain
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University of Gothenburg