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congenital myasthenic syndrome 11

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene.
Uniprot Description A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS11 is an autosomal recessive disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.
Mondo Term and Equivalent IDs
MONDO:0014588:  congenital myasthenic syndrome 11
MESH:C563831: