AGRN encodes agrin (2,068 aa). Depending on alternative splicing and post-translational modifications, it has a role in different processes, including neuromuscular junction formation and maintenance, and regulation of neurite outgrowth. Highest expression in Thyroid (97.4 TPM) and Kidney Medulla (74.2 TPM).

Congenital myasthenic syndrome 8 is caused by mutations in the AGRN gene on chromosome 1.

AGRN is classified as a druggable target (Druggable Genome and Kinase categories) with score 0.0.

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

Biomarker and diagnostic research for congenital myasthenic syndrome 8 has been reported in the published literature.

Phenotype severity distribution: 4 always present features, 1 common feature.

No clinical trials have been registered for congenital myasthenic syndrome 8.

27 publications have been identified in PubMed for congenital myasthenic syndrome 8. Research spans Case Report / Case Series (37%), Epidemiology / Natural History (19%), and Review / Meta-Analysis (11%).

Recent Publications

• Rossini E (2026). [PMID: 41251564](https://pubmed.ncbi.nlm.nih.gov/41251564/). *Muscle & nerve*. [Epidemiology / Natural History]

• Erturk AY (2026). [PMID: 41517821](https://pubmed.ncbi.nlm.nih.gov/41517821/). *Journal of clinical neurology (Seoul, Korea)*. [Gene Therapy / Novel Therapeutics]

• Jose A (2026). [PMID: 41999517](https://pubmed.ncbi.nlm.nih.gov/41999517/). *Neurogenetics*. [Case Report / Case Series]

• Bulut N (2026). [PMID: 42090667](https://pubmed.ncbi.nlm.nih.gov/42090667/). *Rev Assoc Med Bras (1992)*. [Clinical Trial Publication]

• Ho K (2026). [PMID: 42146855](https://pubmed.ncbi.nlm.nih.gov/42146855/). *Brain Commun*. [Gene Therapy / Novel Therapeutics]

• Oommen AT (2025). [PMID: 40512964](https://pubmed.ncbi.nlm.nih.gov/40512964/). *Journal of clinical neuromuscular disease*. [Case Report / Case Series]

• Krenn M (2025). [PMID: 41004697](https://pubmed.ncbi.nlm.nih.gov/41004697/). *Neurology*. [Diagnostic / Biomarker]

• Della Marina A (2025). [PMID: 39948634](https://pubmed.ncbi.nlm.nih.gov/39948634/). *Acta neuropathologica communications*. [Basic Science / Preclinical]

• Li J (2025). [PMID: 40200352](https://pubmed.ncbi.nlm.nih.gov/40200352/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]

• Zhang J (2025). [PMID: 40442802](https://pubmed.ncbi.nlm.nih.gov/40442802/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]