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Article

Mutations causing congenital myasthenia reveal principal coupling pathway in the acetylcholine receptor ε-subunit.

JCI insight - 25 Jan 2018

Shen Xin-Ming, Brengman Joan M, Shen Shelley, Durmus Hacer, Preethish-Kumar Veeramani, Yuceyar Nur, Vengalil Seena, Nalini Atchayaram, Deymeer Feza, Sine Steven M, Engel Andrew G

Abstract excerpt

We identify 2 homozygous mutations in the ε-subunit of the muscle acetylcholine receptor (AChR) in 3 patients with severe congenital myasthenia: εR218W in the pre-M1 region in 2 patients and εE184K in the β8-β9 linker in 1 patient. Arg218 is conserved in all eukaryotic members of the Cys-loop receptor superfamily, while Glu184 is conserved in the α-, δ-, and ε-subunits of AChRs from all species. εR218W reduces...

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Identifiers

PMID: 29367459
DOI: 10.1172/jci.insight.97826
PMCID: PMC5821208

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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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