congenital myasthenic syndrome 4B
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
MONDO:1040021
congenital myasthenic syndrome 4
is_a
CMS4B
exact
congenital myasthenic syndrome type 4B
exact
myasthenic syndrome, congenital, 4B, FAST-channel
related