Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
- Author
- TAJSHARGHI, Homa1 ; LEREN, Trond P2 ; ABDUL-HUSSEIN, Saba1 ; TULINIUS, Mar3 ; BRUNVAND, Leif4 ; DAHL, Hilde M4 ; OLDFORS, Anders1
[1] Department of Pathology, Institute of Biomedicine, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden
[2] Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Oslo, Norway
[3] Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden
[4] Department of Pediatrics, Ullevål University Hospital, Oslo, Norway - Source
Journal of medical genetics. 2010, Vol 47, Num 8, pp 575-577, 3 p ; ref : 5 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Coeur Génétique Homme Mutation Myopathie Myosine Protéine C Protéine liaison
- Keyword (en)
- Heart Genetics Human Mutation Myopathy Myosin Protein C Binding protein
- Keyword (es)
- Corazón Genética Hombre Mutación Miopatía Miosina Proteína C Proteína enlace
- 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 / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 23083962
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.2009.072710 
https://dx.doi.org/10.1136/jmg.2009.072710
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