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AChR deficiency due to ε-subunit mutations: two common mutations in the Netherlands
Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary disorders affecting neuromuscular transmission. We have identified mutations within the acetylcholine receptor (AChR) ε-subunit gene underlying congenital myasthenic syndromes in nine patients (seven k...
Autores principales: | Faber, Catharina G., Molenaar, Peter C., Vles, Johannes S. H., Bonifati, Domenic M., Verschuuren, Jan J. G. M., van Doorn, Pieter A., Kuks, Jan B. M., Wokke, John H. J., Beeson, David, De Baets, Marc |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
D. Steinkopff-Verlag
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758211/ https://www.ncbi.nlm.nih.gov/pubmed/19544078 http://dx.doi.org/10.1007/s00415-009-5190-7 |
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