OBO ID: DOID:0110676
Term Name: congenital myasthenic syndrome 13 Search Ontology:
Synonyms:
  • CMS13
  • CMSTA2
  • congenital myasthenic syndrome 13 with tubular aggregates
  • congenital myasthenic syndrome with tubular aggregates 2
Definition: A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (2)
References:
Ontology: Human Disease   (DOID:0110676)
OTHER congenital myasthenic syndrome 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DPAGT1 Myasthenic syndrome, congenital, 13, with tubular aggregates 614750
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None