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Article

Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.

Annals of neurology - 1 Apr 1999

Nichols P, Croxen R, Vincent A, Rutter R, Hutchinson M, Newsom-Davis J, Beeson D

Abstract excerpt

Congenital myasthenic syndrome comprises a heterogeneous group of inherited disorders of neuromuscular transmission. Acetylcholine receptor (AChR) deficiency is the most common form of congenital myasthenic syndrome and in most cases results from mutations within the coding region of the AChR epsilon subunit. However, studies in mice have established that synapse-specific expression of AChR is dependent on a...

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PMID: 10211467

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.PMID 10211467Read ↗

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A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.Semantic proximity Read ↗

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Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.Semantic proximity Read ↗

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Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit.Semantic proximity Read ↗

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