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Article

A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.

Human molecular genetics - 1 Dec 2004

Cossins Judy, Webster Richard, Maxwell Susan, Burke Georgina, Vincent Angela, Beeson David

Abstract excerpt

The two subtypes of mammalian muscle nicotinic acetylcholine receptors (AChR) are generated by the substitution of the epsilon (adult) subunit for the gamma (fetal) subunit within the AChR pentamer. Null mutations of the adult AChR epsilon-subunit gene are the most common cause of the AChR deficiency syndrome. This is a disorder of neuromuscular transmission characterized by non-progressive fatigable muscle...

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PMID: 15471888
DOI: 10.1093/hmg/ddh320

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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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