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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: D. Steinkopff-Verlag 2009
Assuntos:
Original Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2758211/
https://ncbi.nlm.nih.gov/pubmed/19544078
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-009-5190-7
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