CHRNE encodes cholinergic receptor nicotinic epsilon subunit (493 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 Highest expression in Heart Atrial Appendage (78.3 TPM) and Pituitary (74.9 TPM).

Congenital myasthenic syndrome 4C is associated with mutations in the CHRNE gene on chromosome 17.

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

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

Biomarker and diagnostic research for congenital myasthenic syndrome 4C has been reported in the published literature.

Phenotype severity distribution: 4 always present features.

No clinical trials have been registered for congenital myasthenic syndrome 4C.

4 publications have been identified in PubMed for congenital myasthenic syndrome 4C. Research spans Diagnostic / Biomarker (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Mroczek M (2026). [PMID: 41575592](https://pubmed.ncbi.nlm.nih.gov/41575592/). *Journal of neurology*. [Diagnostic / Biomarker]

• Petchesi CD (2025). [PMID: 39941166](https://pubmed.ncbi.nlm.nih.gov/39941166/). *Diagnostics (Basel, Switzerland)*. [Case Report / Case Series]

• Theuriet J (2024). [PMID: 38696726](https://pubmed.ncbi.nlm.nih.gov/38696726/). *Brain : a journal of neurology*. [Epidemiology / Natural History]

• Ryan-Phillips F (2024). [PMID: 39595115](https://pubmed.ncbi.nlm.nih.gov/39595115/). *Biomedicines*. [Diagnostic / Biomarker]