A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria
- Author
- OSTERGAARD, Elsebet1 ; SCHWARTZ, Marianne1 ; BATBAYLI, Mustafa1 ; CHRISTENSEN, Ernst1 ; HJALMARSON, Ola2 ; KOLLBERG, Gittan3 ; HOLME, Elisabeth3
[1] Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark
[2] Department of Pediatrics, Gothenburg University, Gothenburg, Sweden
[3] Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden - Source
European journal of pediatrics. 2010, Vol 169, Num 2, pp 201-205, 5 p ; ref : 13 ref
- CODEN
- EJPEDT
- ISSN
- 0340-6199
- Scientific domain
- Genetics; Pediatrics
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Encephalomyopathy Methylmalonic aciduria SUCLA2 SUCLG1 Succinate-CoA ligase mtDNA depletion
- Keyword (fr)
- Acide méthylmalonique Acidurie Association DNA mitochondrial Déplétion Encéphalopathie Ligases Mutation faux sens Pédiatrie Enzyme Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Methylmalonic acid Aciduria Association Mitochondrial DNA Depletion Encephalopathy Ligases Missense mutation Pediatrics Enzyme Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Metilmalónico ácido Aciduria Asociación DNA mitocondrial Depleción Encefalopatía Ligases Mutación falso sentido Pediatría Enzima Encéfalo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Discipline
- Generalities in medical sciences
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22375117
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s00431-009-1007-z 
https://dx.doi.org/10.1007/s00431-009-1007-z
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