Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 3C
DOID:0110664
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 3C

Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37.
Synonyms
  • congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Cross References
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