Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome
- Author
- OSTERGAARD, Elsebet1 ; RODENBURG, Richard J2 ; VAN DEN BRAND, Mariël2 ; THOMSEN, Lise Lykke3 ; DUNO, Morten1 ; BATBAYLI, Mustafa1 ; WIBRAND, Flemming1 ; NIJTMANS, Leo2
[1] Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
[2] Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[3] Department of Pediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark - Source
Journal of medical genetics. 2011, Vol 48, Num 11, pp 737-740, 4 p ; ref : 30 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Complexe Cytopathie mitochondriale Encéphalomyélopathie nécrosante subaiguë de Leigh Génétique Homme Mutation Enzymopathie Maladie héréditaire Maladie métabolique Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Complexes Mitochondrial disorder Leigh disease Genetics Human Mutation Enzymopathy Genetic disease Metabolic diseases Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Complejo Citopatía mitocondrial Encefalomielopatía necrosante subaguda Leigh Genética Hombre Mutación Enzimopatía Enfermedad hereditaria Metabolismo patología Encéfalo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Metabolic diseases Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24703490
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
10.1136/jmg.2011.088856 
https://dx.doi.org/10.1136/jmg.2011.088856
