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Article

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

BMC genetics - 31 May 2016

Kariminejad Ariana, Almadani Navid, Khoshaeen Atefeh, Olsson Bjorn, Moslemi Ali-Reza, Tajsharghi Homa

Abstract excerpt

BACKGROUND: In humans, muscle-specific nicotinergic acetylcholine receptor (AChR) is a transmembrane protein with five different subunits, coded by CHRNA1, CHRNB, CHRND and CHRNG/CHRNE. The gamma subunit of AChR encoded by CHRNG is expressed during early foetal development, whereas in the adult, the γ subunit is replaced by a ε subunit. Mutations in the CHRNG encoding the embryonal acetylcholine receptor may...

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Source

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Identifiers

PMID: 27245440
DOI: 10.1186/s12863-016-0382-5
PMCID: PMC4886457

Genes

CHRNG
CHRNA1
CHRND
CHRNE

Provenance

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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