Congenital myasthenic syndrome (CMS): AGRIN
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital myasthenic syndrome (CMS): AGRIN. This is caused by mutations in the AGRN gene on Chromosome 1p. Fully referenced neurology checklist.
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
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Treatment
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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
- Congenital myasthenic syndrome (CMS): pathway classification
- Congenital myasthenic syndrome (CMS): general features
- Congenital myasthenic syndrome (CMS): DOK7
- Congenital myasthenic syndrome (CMS): MUSK
- Congenital myasthenic syndrome (CMS): RAPSN
- Congenital myasthenic syndrome (CMS): COLQ
- Congenital myasthenic syndrome (CMS): CHAT
- Congenital myasthenic syndrome (CMS): LAMB2
- Congenital myasthenic syndrome (CMS): GMPPB
- Congenital myasthenic syndrome (CMS): fast channel
- Congenital myasthenic syndrome (CMS): slow channel
- Congenital myasthenic syndrome (CMS): limb girdle
- Congenital myasthenic syndrome (CMS): glycosylation defects
- Congenital myasthenic syndrome with episodic apnoea (CMS-EA)
- Congenital myasthenic syndromes (CMS) presenting in adulthood
