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congenital myasthenic syndrome 2C (CMS2C) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 2C

MONDO:0014582

Also known as:CMS2Ccongenital myasthenic syndrome 2C associated with acetylcholine receptor deficiencycongenital myasthenic syndrome type 2C

Overview

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.

GeneticsAutosomal recessive · CHRNB1 (chr 17)

OnsetNEONATAL

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Feeding difficulties, Difficulty breathing (respiratory insufficiency), and EMG: decremental response of compound muscle action potential to repetitive nerve stimulation. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Myopathy, Low muscle tone (hypotonia), Neonatal hypotonia

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CHRNB1 encodes cholinergic receptor nicotinic beta 1 subunit (501 aa). After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane

Congenital myasthenic syndrome 2C is caused by mutations in the CHRNB1 gene on chromosome 17.

CHRNB1 is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 0.5.

Diagnosis

Genetic testing for CHRNB1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 2C has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for congenital myasthenic syndrome 2C.

4 publications have been identified in PubMed for congenital myasthenic syndrome 2C. Research spans Diagnostic / Biomarker (100%).

Recent Publications

Ouyang X (2025). [PMID: 40129607](https://pubmed.ncbi.nlm.nih.gov/40129607/). *Frontiers in genetics*. [Diagnostic / Biomarker]
Kurtovic-Kozaric A (2024). [PMID: 39720176](https://pubmed.ncbi.nlm.nih.gov/39720176/). *Frontiers in genetics*. [Diagnostic / Biomarker]
Ryan-Phillips F (2024). [PMID: 39595115](https://pubmed.ncbi.nlm.nih.gov/39595115/). *Biomedicines*. [Diagnostic / Biomarker]
Schroeter CB (2024). [PMID: 38888758](https://pubmed.ncbi.nlm.nih.gov/38888758/). *Acta neuropathologica*. [Diagnostic / Biomarker]

Data assembled from 6 of 12 sources · Last updated Oct 4, 2026, 12:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616314

GARD

Genetic and Rare Diseases Info Center

GARD:16083

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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congenital myasthenic syndrome 2C

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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