AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands
- Author
- FABER, Catharina G1 ; MOLENAAR, Peter C2 9 ; VLES, Johannes S. H3 ; BONIFATI, Domenic M4 ; VERSCHUUREN, Jan J. G. M5 ; VAN DOORN, Pieter A6 ; KUKS, Jan B. M7 ; WOKKE, John H. J8 ; BEESON, David4 ; DE BAETS, Marc9
[1] Department of Neurology, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, Netherlands
[2] Department of Neurophysiology and Molecular Cell Biology, Leiden University Medical Center, Leiden, Netherlands
[3] Department of Child Neurology, Maastricht University Medical Centre, Maastricht, Netherlands
[4] Neuroscience Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Oxford, United Kingdom
[5] Department of Neurology, Leiden University Medical Center, Leiden, Netherlands
[6] Department of Neurology, Erasmus Medical Center, Rotterdam, Netherlands
[7] Department of Neurology, University Medical Centre Groningen, Groningen, Netherlands
[8] Department of Neurology, University Medical Center Utrecht, Utrecht, Netherlands
[9] Department of Neuroscience, Institute of Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, Netherlands - Source
Journal of neurology. = Zeitschrift für Neurologie. 2009, Vol 256, Num 10, pp 1719-1723, 5 p ; ref : 15 ref
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- AChR mutations AChR ε-subunit gene Congenital myasthenic syndrome
- Keyword (fr)
- Congénital Déficit Mutation Myasthénie Pathologie du système nerveux Sousunité Pays-Bas Pathologie neuromusculaire Europe
- Keyword (en)
- Congenital Deficiency Mutation Myasthenia gravis Nervous system diseases Subunit Netherlands Neuromuscular diseases Europe
- Keyword (es)
- Congénito Déficiencia Mutación Miastenia Sistema nervioso patología Subunitad Holanda Neuromuscular patología Europa
- Classification
- 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
- 22086168
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
10.1007/s00415-009-5190-7 
https://dx.doi.org/10.1007/s00415-009-5190-7
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