A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians
- Author
- ROSSIGNOL, E1 ; MATHIEU, J2 ; THIFFAULT, I1 ; TETREAULT, M1 ; DICAIRE, M.-J1 ; CHRESTIAN, N3 ; DUPRE, N3 ; PUYMIRAT, J4 ; BRAIS, B2
[1] Laboratory of Neurogenetics of Motion, Centre for the Study of Brain Diseases, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CHUM), Université de Montréal, Canada
[2] Clinique des Maladies Neuromusculaires, Carrefour de Santé de Jonquière, Saguenay, Canada
[3] Service de Neurologie, Centre Hospitalier Affilié Universitaire de Québec, Hôpital Enfant-Jésus, Université Laval, Canada
[4] Laboratoire de Génétique Humaine, Centre Hospitalier Universitaire de Québec, pavilion CHUL, Québec, Canada - Source
Neurology. 2007, Vol 69, Num 20, pp 1937-1941, 5 p ; ref : 33 ref
- Publisher
- Lippincott Williams & Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Canadien français Douleur Froid Mutation Myotonie Pathologie du système nerveux Facteur milieu Pathologie neuromusculaire Température
- Keyword (en)
- French canadian Pain Cold Mutation Myotonia Nervous system diseases Environmental factor Neuromuscular diseases Temperature
- Keyword (es)
- Canadiense francés Dolor Frío Mutación Miotonía Sistema nervioso patología Factor medio Neuromuscular patología Temperatura
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19559954
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
10.1212/01.wnl.0000290831.08585.2c 
https://dx.doi.org/10.1212/01.wnl.0000290831.08585.2c
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