congenital myasthenic syndrome 2A
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of 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 mutation in the CHRNB1 gene on chromosome 17p13.
MONDO:0020344
postsynaptic congenital myasthenic syndrome
is_a
CMS IIa
related
CMS2A
exact
SCCMS
related
congenital myasthenic syndrome type 2A
exact
myasthenic syndrome, congenital, 2A, slow-channel
related
myasthenic syndrome, congenital, postsynaptic slow-channel
related
myasthenic syndrome, congenital, slow-channel
related
myasthenic syndrome, congenital, type IIa
related
slow channel congenital myasthenic syndrome
related