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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Detalles Bibliográficos
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
Formato: Texto
Lenguaje:English
Publicado: D. Steinkopff-Verlag 2009
Materias:
Original Communication
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

Internet

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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