Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 3B
DOID:0110665
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 3B

Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
Synonyms
  • CMS3B
  • congenital myasthenic syndrome 3B, fast-channel
Cross References
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