Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland
- Author
- SUOMINEN, Tiina1 ; BACHINSKI, Linda L2 ; AUVINEN, Satu3 ; HACKMAN, Peter4 ; BAGGERLY, Keith A5 6 ; ANGELINI, Corrado7 ; PELTONEN, Leena8 ; KRAHE, Ralf2 6 9 ; UDD, Bjarne1 10 11 4
[1] Neuromuscular Research Unit, Medical School, University of Tampere, Tampere, Finland
[2] Department of Genetics, University of Texas MD Anderson Cancer Center, Houston, TX, United States
[3] Department of Neurology, Central Hospital of Jyväskylä, Jyväskylä, Finland
[4] Department of Medical Genetics, Haartman Institute, University of Helsinki and Folkhälsan Institute of Genetics, Helsinki, Finland
[5] Department of Bioinformatics and Computational Biology, University of Texas MD Anderson Cancer Center, Houston, TX, United States
[6] Graduate Program in Human and Molecular Genetics, University of Texas at Houston Graduate School of Biomedical Sciences, Houston, TX, United States
[7] Department of Neurosciences, University of Padova, Padova, Italy
[8] Department of Medical Genetics, University of Helsinki, Helsinki, Finland
[9] Genes and Development, University of Texas at Houston Graduate School of Biomedical Sciences, Houston, TX, United States
[10] Department of Neurology, Tampere University Hospital, Tampere, Finland
[11] Department of Neurology, Vaasa Central Hospital, Vaasa, Finland - Source
European journal of human genetics. 2011, Vol 19, Num 7, pp 776-782, 7 p ; ref : 31 ref
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- mutation frequency myotonic dystrophy population prevalence
- Keyword (fr)
- Dystrophie myotonique Fréquence Génétique Homme Mutation Population Prévalence Santé publique Finlande Maladie héréditaire Myotonie Pathologie du système nerveux Pathologie neuromusculaire Europe
- Keyword (en)
- Myotonic dystrophy Frequency Genetics Human Mutation Population Prevalence Public health Finland Genetic disease Myotonia Nervous system diseases Neuromuscular diseases Europe
- Keyword (es)
- Distrofia miotónica Frecuencia Genética Hombre Mutación Población Prevalencia Salud pública Finlandia Enfermedad hereditaria Miotonía Sistema nervioso patología Neuromuscular patología Europa
- 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 / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- 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 Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24258527
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
10.1038/ejhg.2011.23 
https://dx.doi.org/10.1038/ejhg.2011.23
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