Version: 8.0.0
Date: Tue Jan 28 2025
congenital myasthenic syndrome 12
DOID:0110660
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital myasthenic syndrome 12

Definition
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
Synonyms
  • CMS12
  • congenital myasthenia 12 with tubular aggregates
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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