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 mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report.

Neuromuscular disorders : NMD - 1 Mar 2021

Vidanagamage Anomali, Gooneratne Inuka Kishara, Nandasiri Shanika, Gunaratne Kamal, Fernando Arjuna, Maxwell Susan, Cossins Judith, Beeson David, Chang Thashi

Abstract excerpt

Congenital myasthenic syndromes (CMS) are genetically determined heterogenous disorders of neuromuscular transmission. We report a rare mutation of COLQ causing CMS in an Asian man that remarkably improved with fluoxetine. A 51-year-old Sri Lankan man with slowly progressive fatigable muscle weakness since eight years of age, presented with type 2 respiratory failure that required mechanical ventilation in the...

Read the complete abstract on PubMed

Topics

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

Share to Acetylcholinesterase
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen

Share to Fluoxetine

Share to Muscle Proteins

Share to Myasthenic Syndromes, Congenital

Share to Sequence Analysis, DNA

Share to Sri Lanka

Source

Identifiers

PMID: 33487521
DOI: 10.1016/j.nmd.2020.12.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case report.PMID 33487521Read ↗

Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature.Semantic proximity Read ↗

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.Semantic proximity Read ↗

COLQ-related congenital myasthenic syndrome: An integrative view.Semantic proximity Read ↗

Genotypic and phenotypic spectrum of congenital myasthenic syndrome: Insights from Southeastern Türkiye.Semantic proximity Read ↗

Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.Semantic proximity Read ↗

Recurrent COLQ mutation in congenital myasthenic syndrome.Semantic proximity Read ↗

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein.Semantic proximity Read ↗

Congenital myasthenic syndromes.Semantic proximity Read ↗

[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].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 ↗

Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital.Semantic proximity Read ↗

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