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Article

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

Journal of neurology - 1 Oct 2009

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

Abstract excerpt

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 (seven kinships) of Dutch origin. Previously reported mutations epsilon1369delG and epsilonR311Q were found to be...

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Identifiers

PMID: 19544078
DOI: 10.1007/s00415-009-5190-7
PMCID: PMC2758211

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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