AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

AChR deficiency due to epsilon-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) epsilon-subunit gene underlying congenital myasthenic syndromes in nine patients (s...

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Détails bibliographiques
Auteurs principaux:	Faber, C, Molenaar, P, Vles, J, Bonifati, D, Verschuuren, J, van Doorn, P, Kuks, J, Wokke, J, Beeson, D, De Baets, M
Format:	Journal article
Langue:	English
Publié:	2009

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