myasthenic syndrome, congenital, 1B, fast-channel
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.
MONDO:0011088
congenital myasthenic syndrome 1A
is_a
CMS1B
exact
congenital myasthenic syndrome type 1B
exact
myasthenic syndrome, congenital, 1B, fast-channel
exact