congenital myasthenic syndrome 3B
A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.
MONDO:0020344
postsynaptic congenital myasthenic syndrome
is_a
CMS3B
exact
congenital myasthenic syndrome type 3B
exact
myasthenic syndrome, congenital, 3B, FAST-channel
related