Isolated cardiomyopathy caused by a DMD nonsense mutation in somatic mosaicism: genetic normalization in skeletal muscle
- Author
- JUAN-MATEU, J1 2 ; PARADAS, C3 ; OLIVE, M4 ; VERDURA, E1 ; RIVAS, E5 ; GONZALEZ-QUEREDA, L1 ; RODRIGUEZ, M. J1 ; BAIGET, M1 ; GALLANO, P1
[1] Genetics Department, Hospital Sant Pau, CIBERER, Barcelona, Spain
[2] Universitat de Barcelona (UB), Barcelona, Spain
[3] Neurology Department, Hospital Virgen del Rocío/IBiS/CIBERNED, Sevilla, Spain
[4] Institut de Neuropatologia, IDIBELL-Hospital de Bellvitge, CIBERNED, Hospitalet de Llobregat, L'Hospitalet de Llobregat, Spain
[5] Pathology Department, Hospital Virgen del Rocio, Sevilla, Spain - Source
Clinical genetics. 2012, Vol 82, Num 6, pp 574-578, 5 p ; ref : 17 ref
- Publisher
- Wiley-Blackwell, Oxford
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- dilated cardiomyopathy dystrophin genetic normalization somatic mosaicism
- Keyword (fr)
- Cardiomyopathie hypertrophique congestive Cardiopathie Cellule somatique Dystrophine Génétique Mosaïcisme Muscle strié Mutation non sens Pathologie de l'appareil circulatoire Cardiomyopathie dilatée Pathologie du myocarde
- Keyword (en)
- Congestive hypertrophic cardiomyopathy Heart disease Somatic cell Dystrophin Genetics Mosaicism Striated muscle Nonsense mutation Cardiovascular disease Dilated cardiomyopathy Myocardial disease
- Keyword (es)
- Cardiomiopatía hipertrófica congestiva Cardiopatía Célula somática Distrofina Genética Mosaicismo Músculo estriado Mutación sin sentido Aparato circulatorio patología Cardiomiopatía dilatada Miocardio 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
- 26585202
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
10.1111/j.1399-0004.2011.01814.x 
https://dx.doi.org/10.1111/j.1399-0004.2011.01814.x
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