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Article

Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor.

Annals of the New York Academy of Sciences - 21 Jun 1993

Engel A G, Hutchinson D O, Nakano S, Murphy L, Griggs R C, Gu Y, Hall Z W, Lindstrom J

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Identifiers

PMID: 8357190
DOI: 10.1111/j.1749-6632.1993.tb22933.x

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

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Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor.PMID 8357190Read ↗

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

Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.Semantic proximity Read ↗

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 ↗

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.Semantic proximity Read ↗

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.Semantic proximity Read ↗

End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunitSemantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.Semantic proximity Read ↗

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.Semantic proximity Read ↗

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.Semantic proximity Read ↗

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.Semantic proximity Read ↗

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