/congenital myasthenic syndrome 4B

congenital myasthenic syndrome 4B

Rare Disease

MONDO:0014586

Also Known As

CMS4Bcongenital myasthenic syndrome 4B fast-channelcongenital myasthenic syndrome type 4Bmyasthenic syndrome, congenital, 4B, FAST-channel

Definition

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.