SYT2 function has not been fully characterized.

Congenital myasthenic syndrome 7 has been associated with mutations in the SYT2 gene on chromosome 1.

Genetic testing for SYT2 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 7 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 2 very common features, 8 common features.

No clinical trials have been registered for congenital myasthenic syndrome 7.

22 publications have been identified in PubMed for congenital myasthenic syndrome 7. Research spans Review / Meta-Analysis (32%), Case Report / Case Series (27%), and Epidemiology / Natural History (18%).

Recent Publications

• Ostojić S (2026). [PMID: 42123532](https://pubmed.ncbi.nlm.nih.gov/42123532/). *Int J Mol Sci*. [Diagnostic / Biomarker]

• Gill H (2026). [PMID: 41838965](https://pubmed.ncbi.nlm.nih.gov/41838965/). *Neurology*. [Case Report / Case Series]

• Garg M (2026). [PMID: 41817069](https://pubmed.ncbi.nlm.nih.gov/41817069/). *Neurol India*. [Epidemiology / Natural History]

• Takhman M (2025). [PMID: 41382066](https://pubmed.ncbi.nlm.nih.gov/41382066/). *BMC Neurol*. [Review / Meta-Analysis]

• Cossins J (2025). [PMID: 39944742](https://pubmed.ncbi.nlm.nih.gov/39944742/). *Brain Commun*. [Clinical Trial Publication]

• Della Marina A (2025). [PMID: 39948634](https://pubmed.ncbi.nlm.nih.gov/39948634/). *Acta Neuropathol Commun*. [Diagnostic / Biomarker]

• Abdullah A (2025). [PMID: 40751639](https://pubmed.ncbi.nlm.nih.gov/40751639/). *J Pak Med Assoc*. [Case Report / Case Series]

• Fontana PN (2025). [PMID: 41331967](https://pubmed.ncbi.nlm.nih.gov/41331967/). *J Clin Neuromuscul Dis*. [Review / Meta-Analysis]

• Kulsirichawaroj P (2025). [PMID: 40494860](https://pubmed.ncbi.nlm.nih.gov/40494860/). *Pediatr Res*. [Diagnostic / Biomarker]

• Finsterer J (2025). [PMID: 40330390](https://pubmed.ncbi.nlm.nih.gov/40330390/). *Cureus*. [Case Report / Case Series]