Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.

The Journal of clinical investigation - 1 Jul 2001

Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin J P, Vincent A, Newsom-Davis J, Beeson D

Abstract excerpt

Limitation of movement during fetal development may lead to multiple joint contractures in the neonate, termed arthrogryposis multiplex congenita. Neuromuscular disorders are among the many different causes of reduced fetal movement. Many congenital myasthenic syndromes (CMSs) are due to mutations of the adult-specific epsilon subunit of the acetylcholine receptor (AChR), and, thus, functional deficits do not...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Action Potentials
Share to Arthrogryposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electromyography

Share to Fetal Proteins

Share to Myasthenia Gravis

Share to Protein Subunits

Share to Receptors, Cholinergic

Share to Vertebrates

Source

Open in PubMed Open full text

Identifiers

PMID: 11435464
DOI: 10.1172/JCI12935
PMCID: PMC209343

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita.PMID 11435464Read ↗

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

Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations.Semantic proximity Read ↗

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.Semantic proximity Read ↗

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductanceSemantic proximity Read ↗

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction.Semantic proximity Read ↗

A modified acetylcholine receptor delta-subunit enables a null mutant to survive beyond sexual maturation.Semantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

Congenital myasthenic syndromes: recent advances.Semantic proximity Read ↗

New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.Semantic proximity Read ↗

Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.Semantic proximity Read ↗

Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.Semantic proximity Read ↗

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndromeSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.