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Article

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

Journal of human genetics - 1 Apr 2015

Seo Jieun, Choi In-Ho, Lee Je Sang, Yoo Yongjin, Kim Nayoung K D, Choi Murim, Ko Jung Min, Shin Yong Beom

Abstract excerpt

Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, lethal type (OMIM#253290). Mutations in CHRNG, which encode the acetylcholine receptor gamma...

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Source

Identifiers

PMID: 25608830
DOI: 10.1038/jhg.2015.2

Genes

CHRNG

Variants

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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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