Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 1A
DOID:0110663
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 1A

Definition
A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
Synonyms
  • CMS IIa
  • CMS1A
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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