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

BMC neurology - 7 Oct 2016

Chang Thashi, Cossins Judith, Beeson David

Abstract excerpt

BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PRESENTATION: A...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Base Sequence
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myasthenia Gravis and Thymoma

Share to Myasthenic Syndromes, Congenital

Share to Neurofibromatosis and Schwannoma Cases

Share to Pituitary Gland Disorders and Treatments

Share to Receptors, Nicotinic

Source

Open in PubMed Open full text

Identifiers

PMID: 27717316
DOI: 10.1186/s12883-016-0716-y
PMCID: PMC5055717

Genes

CHRNE

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report.PMID 27717316Read ↗

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

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

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

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 ↗

CHRNE compound heterozygous mutations in congenital myasthenic syndrome: A case report.Semantic proximity Read ↗

Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations.Semantic proximity Read ↗

Severe congenital myasthenic syndrome associated with novel biallelic mutation of the CHRND gene.Semantic proximity Read ↗

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study.Semantic proximity Read ↗

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.Semantic proximity Read ↗

Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.Semantic proximity Read ↗

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