OBO ID: DOID:0110660
Term Name: congenital myasthenic syndrome 12 Search Ontology:
Synonyms:
  • CMS12
  • congenital myasthenia 12 with tubular aggregates
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. (2)
References:
Ontology: Human Disease   (DOID:0110660)
OTHER congenital myasthenic syndrome 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GFPT1 Myasthenia, congenital, 12, with tubular aggregates 610542
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None