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 newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.

Brain : a journal of neurology - 1 May 2002

Abicht Angela, Stucka Rolf, Schmidt Carolin, Briguet Alexandre, Höpfner Sebastian, Song In-Ho, Pongratz Dieter, Müller-Felber Wolfgang, Ruegg Markus A, Lochmüller Hanns

Abstract excerpt

Congenital myasthenic syndromes (CMSs) are frequently caused by mutations of the coding region of the acetylcholine receptor epsilon subunit (AChRepsilon) gene leading to a reduced expression of the acetylcholine receptor (AChR) at the postsynaptic membrane. Two recent observations have linked tw...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Genetic Vectors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle, Skeletal

Share to Myasthenic Syndromes, Congenital

Share to Receptors, Cholinergic

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Transcription Initiation Site

Source

Identifiers

PMID: 11960891
DOI: 10.1093/brain/awf095

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11960891-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A newly identified chromosomal microdeletion and an N-box mutation of the AChR epsilon gene cause a congenital myasthenic syndrome.PMID 11960891Read ↗

Mutation of the acetylcholine receptor epsilon-subunit promoter in congenital myasthenic syndrome.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 ↗

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.Semantic proximity Read ↗

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.Semantic proximity Read ↗

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome.Semantic proximity Read ↗

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

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

A synonymous CHRNE mutation responsible for an aberrant splicing leading to congenital myasthenic syndrome.Semantic proximity Read ↗

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.Semantic proximity Read ↗

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

End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunitSemantic 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 ↗

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