Congenital myasthenic syndrome (CMS): AGRIN
Evidence-based neurology checklist on congenital myasthenic syndrome (cms): agrin: Pathology This is caused by mutations in the AGRN gene on Chromosome 1p The gene is important for synaptic differentiation AGRIN activates MUSK The transmission is autosomal recessive Clinical features Treatment
Pathology
- This is caused by mutations in the AGRN gene on Chromosome 1p
- The gene is important for synaptic differentiation
- AGRIN activates MUSK
- The transmission is autosomal recessive
Clinical features
Treatment
References
- Maselli RA, Fernandez JM, Arredondo J, et al. LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet 2012; 131:1123-1135.
- Huzé C, Bauché S, Richard P, et al. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet 2009; 85:155-167.
Related checklists
- Congenital myasthenic syndrome (CMS): genetic classification
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