DISEASES

Disease-gene associations mined from literature

Human genes for congenital myasthenic syndrome

Congenital myasthenic syndrome [DOID:3635]

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).

Synonyms:  congenital myasthenic syndrome,  congenital myasthenic disease,  congenital myasthenic disorder,  DOID:3635,  familial infantile myasthenia 1 ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6