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

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.

Neurology - 22 Oct 1999

Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, Schara U, Ramaekers V, Jost W, Brunner J, Janssen G, Seidel U, Schlotter B, Müller-Felber W, Pongratz D, Rüdel R, Lochmüller H

Abstract excerpt

OBJECTIVE: Mutation analysis of the acetylcholine receptor (AChR) epsilon subunit gene in patients with sporadic or autosomal recessive congenital myasthenic syndromes (CMS). BACKGROUND: The nicotinic AChR of skeletal muscle is a neurotransmitter-gated ion channel that mediates synaptic transmission at the vertebrate neuromuscular junction. Mutations in its gene may cause congenital myasthenic syndromes. A...

Read the complete abstract on PubMed

Topics

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

Share to Europe
Share to Homozygote

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Infant

Share to Myasthenic Syndromes, Congenital

Share to Pedigree

Share to Protein Isoforms

Share to Receptors, Cholinergic

Source

Identifiers

PMID: 10534268
DOI: 10.1212/wnl.53.7.1564

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin.PMID 10534268Read ↗

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.Semantic proximity Read ↗

Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients.Semantic proximity Read ↗

AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.Semantic proximity Read ↗

Congenital myasthenic syndrome (CMS) in three European kinships due to a novel splice mutation (IVS7 - 2 A/G) in the epsilon acetylcholine receptor (AChR) subunit gene.Semantic proximity Read ↗

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.Semantic proximity Read ↗

Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.Semantic proximity Read ↗

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.Semantic proximity Read ↗

Clinical Variability and Genotype-Driven Outcomes in CHRND-Related Congenital Myasthenic Syndrome.Semantic proximity Read ↗

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.Semantic proximity Read ↗

Congenital myasthenic syndrome due to homozygous CHRNE mutations: report of patients in Arabia.Semantic proximity Read ↗

Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits.Semantic proximity Read ↗

Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene.Semantic proximity Read ↗

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