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Article

A single mutation in the acetylcholine receptor δ-subunit causes distinct effects in two types of neuromuscular synapses.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 30 Jul 2014

Park Jee-Young, Mott Meghan, Williams Tory, Ikeda Hiromi, Wen Hua, Linhoff Michael, Ono Fumihito

Abstract excerpt

Mutations in AChR subunits, expressed as pentamers in neuromuscular junctions (NMJs), cause various types of congenital myasthenic syndromes. In AChR pentamers, the adult ε subunit gradually replaces the embryonic γ subunit as the animal develops. Because of this switch in subunit composition, mutations in specific subunits result in synaptic phenotypes that change with developmental age. However, a mutation in...

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Identifiers

PMID: 25080583
DOI: 10.1523/JNEUROSCI.0426-14.2014
PMCID: PMC4115133

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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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