congenital myasthenic syndrome 3A
A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.
MONDO:0020344
postsynaptic congenital myasthenic syndrome
is_a
CMS3A
exact
congenital myasthenic syndrome type 3A
exact
myasthenic syndrome, congenital, 3A, slow-channel
related