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Article

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.

American journal of human genetics - 1 Feb 2008

Michalk Anne, Stricker Sigmar, Becker Jutta, Rupps Rosemarie, Pantzar Tapio, Miertus Jan, Botta Giovanni, Naretto Valeria G, Janetzki Catrin, Yaqoob Nausheen, Ott Claus-Eric, Seelow Dominik, Wieczorek Dagmar, Fiebig Britta, Wirth Brunhilde, Hoopmann Markus, Walther Marisa, Körber Friederike, Blankenburg Markus, Mundlos Stefan, Heller Raoul, Hoffmann Katrin

Abstract excerpt

Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors. Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in two FADS disorders, lethal multiple pterygium syndrome (LMPS) and Escobar syndrome. Other AChR subunits alpha1,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

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Source

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Identifiers

PMID: 18252226
DOI: 10.1016/j.ajhg.2007.11.006
PMCID: PMC2427255

Genes

CHRNA1
CHRND
RAPSN
CHRNB1
CHRNG

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.

Related research

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Research trail→

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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.PMID 18252226Read ↗

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.Semantic proximity Read ↗

Germline mutation in <i>DOK7</i> associated with fetal akinesia deformation sequenceSemantic proximity Read ↗

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A reviewSemantic proximity Read ↗

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

Lethal multiple pterygium syndrome: A severe phenotype associated with a novel mutation in the nebulin gene.Semantic proximity Read ↗

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeSemantic proximity Read ↗

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).Semantic proximity Read ↗

The evolving genetic landscape of neuromuscular fetal akinesiasSemantic proximity Read ↗

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Fetal akinesia: review of the genetics of the neuromuscular causes.Semantic proximity Read ↗

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.Semantic proximity Read ↗

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