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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: D. Steinkopff-Verlag 2009
Pynciau:
Original Communication
Mynediad Ar-lein: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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