Also Known As
CMS IdCMS1DCMS4CFIM1congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiencycongenital myasthenic syndrome type 4Ccongenital myasthenic syndrome type Idfamilial infantile myasthenia 1Cms IdCms Id, formerlycongenital myasthenic syndrome associated with acetylcholine receptor deficiencymyasthenia, familial infantile, 1myasthenia, familial infantile, 1, formerlymyasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiencymyasthenic syndrome, congenital, associated with acetylcholine receptor deficiencymyasthenic syndrome, congenital, type Id
Definition
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.