Congenital myasthenic syndrome 3C

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.

Also known as: congenital myasthenic syndrome type 3C, CMS3C, myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency

0 clinical trials for this condition and its sub-types, 0 tagged with Congenital myasthenic syndrome 3C itself.