A novel mutation in AGRN gene causing congenital myasthenic syndrome with distal myopathy


Agrin is a large heparan sulfate proteoglycan that is generated by alternative RNA splicing resulting in different isoforms in different tissues. Agrin is encoded by the gene AGRN and is essential for neuromuscular synapse formation. Agrin promotes synaptic differentiation by signaling to a receptor complex that consists of muscle-specific receptor tyrosine kinases (MuSK) and low density lipoprotein receptor related protein 4 (Lrp4). Mutations in AGRN have been reported to cause a congenital myasthenic syndrome and is considered one of the rarest subtypes.


Leave A Reply