congenital myasthenic syndrome

Term ID

DOID:3635

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

GARD:11902
MESH:D020294
NCI:C84647
OMIM:PS601462
ORDO:590
SNOMEDCT_US_2023_03_01:230672006
UMLS_CUI:C0751882

Ontology

Human Disease ( DOID:3635 )

Relationships

is a type of: neuromuscular junction disease physical disorder

neuromuscular junction disease physical disorder Show first 5 Terms
has subtype: congenital myasthenic syndrome 1A congenital myasthenic syndrome 1B congenital myasthenic syndrome 2A congenital myasthenic syndrome 2C congenital myasthenic syndrome 3A ... Show All 28 Terms

congenital myasthenic syndrome 1A congenital myasthenic syndrome 1B congenital myasthenic syndrome 2A congenital myasthenic syndrome 2C congenital myasthenic syndrome 3A congenital myasthenic syndrome 3B congenital myasthenic syndrome 3C congenital myasthenic syndrome 4A congenital myasthenic syndrome 4B congenital myasthenic syndrome 4C congenital myasthenic syndrome 5 congenital myasthenic syndrome 6 congenital myasthenic syndrome 7 congenital myasthenic syndrome 8 congenital myasthenic syndrome 9 congenital myasthenic syndrome 10 congenital myasthenic syndrome 11 congenital myasthenic syndrome 12 congenital myasthenic syndrome 13 congenital myasthenic syndrome 14 congenital myasthenic syndrome 15 congenital myasthenic syndrome 16 congenital myasthenic syndrome 17 congenital myasthenic syndrome 18 congenital myasthenic syndrome 19 congenital myasthenic syndrome 20 congenital myasthenic syndrome 21 congenital myasthenic syndrome 22 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations