congenital myasthenic syndrome 4A
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
MONDO:1040021
congenital myasthenic syndrome 4
is_a
CMS4A
exact
Cms Ia1
related
congenital myasthenic syndrome type 4A
exact
congenital myasthenic syndrome type Ia1
related
myasthenic syndrome, congenital, 4A, slow-channel
related