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Article

Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site.

Neurology - 31 Jul 2012

Shen Xin-Ming, Brengman Joan M, Edvardson Simon, Sine Steve M, Engel Andrew G

Abstract excerpt

OBJECTIVE: To characterize the molecular basis of a novel fast-channel congenital myasthenic syndrome. METHODS: We used the candidate gene approach to identify the pathogenic mutation in the acetylcholine receptor (AChR) ε subunit, genetically engineered the mutant AChR into HEK cells, and evaluated the level of expression and kinetic properties of the mutant receptor. RESULTS: An 8-year-old boy born to...

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Identifiers

PMID: 22592360
DOI: 10.1212/WNL.0b013e31825b5bda
PMCID: PMC3405251

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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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