Sökning: (WFRF:(DiMauro L. F)) > Molecular basis of ...
Fältnamn | Indikatorer | Metadata |
---|---|---|
000 | 05362naa a2200997 4500 | |
001 | oai:gup.ub.gu.se/108124 | |
003 | SwePub | |
008 | 240528s2009 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/1081242 URI |
024 | 7 | a https://doi.org/10.1093/brain/awp2212 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Horvath, Rita4 aut |
245 | 1 0 | a Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. |
264 | c 2009-08-31 | |
264 | 1 | b Oxford University Press (OUP),c 2009 |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Cell- och molekylärbiologi0 (SwePub)301082 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Cell and Molecular Biology0 (SwePub)301082 hsv//eng |
653 | a Base Sequence | |
653 | a Cytochrome-c Oxidase Deficiency | |
653 | a genetics | |
653 | a pathology | |
653 | a physiopathology | |
653 | a Diagnosis | |
653 | a Differential | |
653 | a Female | |
653 | a Genotype | |
653 | a Humans | |
653 | a Infant | |
653 | a Infant | |
653 | a Newborn | |
653 | a Male | |
653 | a Mitochondria | |
653 | a metabolism | |
653 | a Mitochondrial Encephalomyopathies | |
653 | a genetics | |
653 | a pathology | |
653 | a physiopathology | |
653 | a Molecular Biology | |
653 | a Molecular Sequence Data | |
653 | a Muscle | |
653 | a Skeletal | |
653 | a pathology | |
653 | a Nucleic Acid Conformation | |
653 | a Pedigree | |
653 | a Phenotype | |
653 | a Point Mutation | |
653 | a Prognosis | |
700 | 1 | a Kemp, John P4 aut |
700 | 1 | a Tuppen, Helen A L4 aut |
700 | 1 | a Hudson, Gavin4 aut |
700 | 1 | a Oldfors, Anders,d 1951u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology4 aut0 (Swepub:gu)xoland |
700 | 1 | a Marie, Suely K N4 aut |
700 | 1 | a Moslemi, Ali-Rezau Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology4 aut0 (Swepub:gu)xmosal |
700 | 1 | a Servidei, Serenella4 aut |
700 | 1 | a Holme, Elisabeth,d 1947u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine4 aut0 (Swepub:gu)xholme |
700 | 1 | a Shanske, Sara4 aut |
700 | 1 | a Kollberg, Gittan,d 1963u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine4 aut0 (Swepub:gu)xkolgi |
700 | 1 | a Jayakar, Parul4 aut |
700 | 1 | a Pyle, Angela4 aut |
700 | 1 | a Marks, Harold M4 aut |
700 | 1 | a Holinski-Feder, Elke4 aut |
700 | 1 | a Scavina, Mena4 aut |
700 | 1 | a Walter, Maggie C4 aut |
700 | 1 | a Coku, Jorida4 aut |
700 | 1 | a Günther-Scholz, Andrea4 aut |
700 | 1 | a Smith, Paul M4 aut |
700 | 1 | a McFarland, Robert4 aut |
700 | 1 | a Chrzanowska-Lightowlers, Zofia M A4 aut |
700 | 1 | a Lightowlers, Robert N4 aut |
700 | 1 | a Hirano, Michio4 aut |
700 | 1 | a Lochmüller, Hanns4 aut |
700 | 1 | a Taylor, Robert W4 aut |
700 | 1 | a Chinnery, Patrick F4 aut |
700 | 1 | a Tulinius, Mar,d 1953u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences4 aut0 (Swepub:gu)xtulim |
700 | 1 | a DiMauro, Salvatore4 aut |
710 | 2 | a Göteborgs universitetb Institutionen för biomedicin, avdelningen för patologi4 org |
773 | 0 | t Brain : a journal of neurologyd : Oxford University Press (OUP)g 132:Pt 11, s. 3165-74q 132:Pt 11<3165-74x 1460-2156 |
773 | 0 | t Braind : Oxford University Press (OUP)g 132:Pt 11, s. 3165-74q 132:Pt 11<3165-74x 0006-8950 |
856 | 4 | u https://academic.oup.com/brain/article-pdf/132/11/3165/932239/awp221.pdf |
856 | 4 8 | u https://gup.ub.gu.se/publication/108124 |
856 | 4 8 | u https://doi.org/10.1093/brain/awp221 |
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