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

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

Neurology - 9 Dec 2008

Richard P, Gaudon K, Haddad H, Ammar A Ben, Genin E, Bauché S, Paturneau-Jouas M, Müller J S, Lochmüller H, Grid D, Hamri A, Nouioua S, Tazir M, Mayer M, Desnuelle C, Barois A, Chabrol B, Pouget J, Koenig J, Gouider-Khouja N, Hentati F, Eymard B, Hantaï D

Abstract excerpt

OBJECTIVE: Mutations in various genes of the neuromuscular junction cause congenital myasthenic syndrome (CMS). A single truncating mutation (epsilon1293insG) in the acetylcholine receptor epsilon subunit gene (CHRNE) was most often identified in CMS families originating from North Africa and was possibly a founder mutation. METHODS: Twenty-three families were studied with an early onset form of CMS and...

Read the complete abstract on PubMed

Topics

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

Share to Africa, Northern
Share to Cholinesterase Inhibitors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Genetic Counseling

Share to Genetic Testing

Share to Molecular Biology

Share to Myasthenic Syndromes, Congenital

Share to Receptors, Nicotinic

Source

Identifiers

PMID: 19064877
DOI: 10.1212/01.wnl.0000336921.51639.0b

Genes

CHRNE

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

The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa.PMID 19064877Read ↗

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

First Characterization of Congenital Myasthenic Syndrome Type 5 in North AfricaSemantic proximity Read ↗

First characterization of congenital myasthenic syndrome type 5 in North Africa.Semantic proximity Read ↗

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 ↗

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

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

A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome.Semantic proximity Read ↗

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

Congenital myasthenic syndrome: phenotypic variability in patients harbouring p.T159P mutation in CHRNE gene.Semantic proximity Read ↗

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

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