Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 3A
DOID:0110666
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 3A

Definition
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37.
Synonyms
  • CMS3A
  • congenital myasthenic syndrome 3A, slow-channel
Cross References
Parent Terms
Child Terms
None
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