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Article

Neuromotor synapses in Escobar syndrome.

American journal of medical genetics. Part A - 1 Dec 2013

Robinson Karyn G, Viereck Matthew J, Margiotta Megan V, Gripp Karen W, Abdul-Rahman Omar A, Akins Robert E

Abstract excerpt

The Escobar variant of multiple pterygium syndrome (OMIM #265000) is a rare, autosomal recessive disorder associated with mutations in the γ-subunit of the nicotinic acetylcholine receptor (CHRNG). CHRNG is expressed in fetal muscle during motor development and contributes to the formation of neu...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24038971
DOI: 10.1002/ajmg.a.36154
PMCID: PMC5600816

Genes

CHRNG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24038971-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Neuromotor synapses in Escobar syndrome.PMID 24038971Read ↗

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

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

Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ SubunitSemantic proximity Read ↗

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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.Semantic proximity Read ↗

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

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Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenitaSemantic proximity Read ↗

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.Semantic proximity Read ↗

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

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