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.

Also known as: CMS4B, congenital myasthenic syndrome type 4B, myasthenic syndrome, congenital, 4B, FAST-channel

0 clinical trials for this condition and its sub-types, 0 tagged with Congenital myasthenic syndrome 4B itself.