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congenital myasthenic syndrome 7

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 SYT2 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. CMS7 is an autosomal dominant, presynaptic disorder resembling Lambert-Eaton myasthenic syndrome. Affected individuals have a variable degree of proximal and distal limb weakness, muscle fatigue that improves with rest, mild gait difficulties, and reduced or absent deep tendon reflexes.
Mondo Term and Equivalent IDs
MONDO:0014468:  congenital myasthenic syndrome 7
UMLS:C4015038: