Congenital myasthenic syndrome 4C

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.

Also known as: CMS4C, congenital myasthenic syndrome type 4C, Cms Id, Cms Id, formerly, congenital myasthenic syndrome associated with acetylcholine receptor deficiency, myasthenia, familial infantile, 1, myasthenia, familial infantile, 1, formerly, myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency

1 clinical trial for this condition and its sub-types.