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congenital myasthenic syndrome 14

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 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. CMS14 is an autosomal recessive form characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound.
Mondo Term and Equivalent IDs
MONDO:0014543:  congenital myasthenic syndrome 14
UMLS:C4015597: