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

Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.

Neuromuscular disorders : NMD - 1 Dec 2015

Santos Ernestina, Moreira Isabel, Coutinho Ester, Gonçalves Guilherme, Lopes Carlos, Lopes Lima José, Leite M Isabel

Abstract excerpt

We report a patient with congenital myasthenic syndrome (CMS) due to mutation in CHRNE with symptoms since the age of 4; mild to moderate fatigable weakness involved mainly ocular, bulbar and limb muscles; functional impact of the disease in their development and physical activity was modest. By the age of 34, the patient experienced gradual worsening of fatigue with dyspnoea and pronounced limb weakness,...

Read the complete abstract on PubMed

Topics

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

Share to Disease Progression
Share to Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Myasthenia Gravis

Share to Myasthenic Syndromes, Congenital

Share to Receptors, Nicotinic

Source

Identifiers

PMID: 26363966
DOI: 10.1016/j.nmd.2015.08.001

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

Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis.PMID 26363966Read ↗

Congenital myasthenia syndrome with demyelinating sensorimotor neuropathy responsive to salbutamol monotherapy: a novel clinical phenotype of CHRNE mutation.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 ↗

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

Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.Semantic proximity Read ↗

Late-onset myasthenia gravis - CTLA4(low) genotype association and low-for-age thymic output of naïve T cells.Semantic proximity Read ↗

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.Semantic proximity Read ↗

Genetics of autoimmune myasthenia gravis, a model for antibody-mediated autoimmunity in man.Semantic proximity Read ↗

Nicotinic acetylcholine receptors of muscles and nerves: comparison of their structures, functional roles, and vulnerability to pathology.Semantic proximity Read ↗

Antibodies to clustered acetylcholine receptor: expanding the phenotype.Semantic proximity Read ↗

Clonal heterogeneity of thymic B cells from early-onset myasthenia gravis patients with antibodies against the acetylcholine receptor.Semantic proximity Read ↗

Association of the gene encoding the delta-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis.Semantic proximity Read ↗

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