A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
- Author
- JONCKHEERE, A. I1 ; HOGEVEEN, M1 ; KAPUSTA, L1 ; DILLMANN, U3 ; SHAMDEEN, M. G3 ; SMEITINK, J. A. M1 ; RODENBURG, R. J. T1 ; NIJTMANS, L. G. J1 ; VAN DEN BRAND, M. A. M1 ; JANSSEN, A. J. M1 ; DIEPSTRA, J. H. S1 ; VAN DEN BRANDT, F. C. A1 ; VAN DEN HEUVEL, L. P1 ; HOL, F. A2 ; HOFSTE, T. G. J2
[1] Department of Pediatrics at the Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[2] Human Genetics at the Nijmegen Centre for Mitochondrial Disorders, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands
[3] Departments of Neurology and Pediatric and Juvenile Medicine, Saarland University, Homburg, Saar, Germany - Source
Journal of medical genetics. 2008, Vol 45, Num 3, pp 129-133, 5 p ; ref : 30 ref
- Publisher
- BMJ, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Cardiomyopathie hypertrophique Cardiopathie Gène Génétique Homme Malade Maladie héréditaire Mitochondrie Mutation Neuropathie Pathologie de l'appareil circulatoire Pathologie du myocarde Pathologie du système nerveux
- Keyword (en)
- Hypertrophic cardiomyopathy Heart disease Gene Genetics Human Patient Genetic disease Mitochondria Mutation Neuropathy Cardiovascular disease Myocardial disease Nervous system diseases
- Keyword (es)
- Cardiomiopatía hipertrófica Cardiopatía Gen Genética Hombre Enfermo Enfermedad hereditaria Mitocondria Mutación Neuropatía Aparato circulatorio patología Miocardio 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 / 002B12 Cardiology. Vascular system / 002B12A Heart / 002B12A05 Myocarditis. Cardiomyopathies
- Discipline
- Cardiology. Circulatory system Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20126663
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.2007.052084 
https://dx.doi.org/10.1136/jmg.2007.052084
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