OBO ID: DOID:3635
Term Name: congenital myasthenic syndrome Search Ontology:
Synonyms:
  • familial infantile myasthenia 1
  • familial limb-girdle myasthenia
Definition: A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (2)
References:
Ontology: Human Disease   ( DOID:3635 )
OTHER congenital myasthenic syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available

CITATIONS (7)