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Article

Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.

The Journal of clinical investigation - 1 Nov 1999

Quiram P A, Ohno K, Milone M, Patterson M C, Pruitt N J, Brengman J M, Sine S M, Engel A G

Abstract excerpt

We describe a severe postsynaptic congenital myasthenic syndrome with marked endplate acetylcholine receptor (AChR) deficiency caused by 2 heteroallelic mutations in the beta subunit gene. One mutation causes skipping of exon 8, truncating the beta subunit before its M1 transmembrane domain, and abolishing surface expression of pentameric AChR. The other mutation, a 3-codon deletion (beta426delEQE) in the long...

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Identifiers

PMID: 10562302
DOI: 10.1172/JCI8179
PMCID: PMC409847

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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