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Molecular basis of ...
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
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Horvath, Rita (author)
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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, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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Marie, Suely K N (author)
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- Moslemi, Ali-Reza (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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Servidei, Serenella (author)
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- Holme, Elisabeth, 1947 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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Shanske, Sara (author)
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- Kollberg, Gittan, 1963 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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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, 1953 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences
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DiMauro, Salvatore (author)
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(creator_code:org_t)
- 2009-08-31
- 2009
- English.
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In: Brain : a journal of neurology. - : Oxford University Press (OUP). - 1460-2156. ; 132:Pt 11, s. 3165-74
- Related links:
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https://academic.oup...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
Keyword
- Base Sequence
- Cytochrome-c Oxidase Deficiency
- genetics
- pathology
- physiopathology
- Diagnosis
- Differential
- Female
- Genotype
- Humans
- Infant
- Infant
- Newborn
- Male
- Mitochondria
- metabolism
- Mitochondrial Encephalomyopathies
- genetics
- pathology
- physiopathology
- Molecular Biology
- Molecular Sequence Data
- Muscle
- Skeletal
- pathology
- Nucleic Acid Conformation
- Pedigree
- Phenotype
- Point Mutation
- Prognosis
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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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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show more...
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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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- About the subject
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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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and Cell and Molecul ...
- Articles in the publication
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Brain : a journa ...
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Brain
- By the university
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University of Gothenburg