Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
- Author
- SARPARANTA, Jaakko1 ; HARALD JONSON, Per1 ; RAHEEM, Olayinka3 ; PENTTILÄ, Sini3 ; LEHTINEN, Sara1 ; HUOVINEN, Sanna3 9 ; PALMIO, Johanna3 ; TASCA, Giorgio10 ; RICCI, Enzo11 ; HACKMAN, Peter1 ; HAUSER, Michael5 6 ; KATSANIS, Nicholas2 ; GOLZIO, Christelle2 ; UDD, Bjarne1 12 3 ; SANDELL, Satu3 4 ; LUQUE, Helena1 ; SCREEN, Mark1 ; MCDONALD, Kristin5 6 ; STAJICH, Jeffrey M5 ; MAHINEH, Ibrahim7 8 ; VIHOLA, Anna1
[1] Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
[2] Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, United States
[3] Neuromuscular Research Unit, Department of Neurology, University Hospital and University of Tampere, Tampere, Finland
[4] Department of Neurology, Seinajoki Central Hospital, Seinajoki, Finland
[5] Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States
[6] Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, United States
[7] Department of Neurology, Pietarsaari Hospital, Pietarsaari, Finland
[8] Department of Neurology, University of Oulu, Oulu, Finland
[9] Department of Pathology, University Hospital and University of Tampere, Tampere, Finland
[10] Don Carlo Gnocchi Onlus Foundation, Milan, Italy
[11] Institute of Neurology, Catholic University School of Medicine, Rome, Italy
[12] Department of Neurology, Vaasa Central Hospital, Vaasa, Finland - Source
Nature genetics. 2012, Vol 44, Num 4, pp 450-455, 6 p ; ref : 23 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Chaperon Dystrophie musculaire progressive des ceintures Mutation
- Keyword (en)
- Chaperone Limb girdle muscular dystrophy Mutation
- Keyword (es)
- Chaperone Distrofia muscular progresiva cinturones Mutación
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Discipline
- Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25767247
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/ng.1103 
https://dx.doi.org/10.1038/ng.1103
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