Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 4C
DOID:0110679
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 4C

Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
Synonyms
  • CMS Id
  • CMS1D
Cross References
Parent Terms
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None
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