congenital myasthenic syndrome 3C

Rare Disease

MONDO:0014585

Also Known As

congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiencycongenital myasthenic syndrome type 3CCMS3Cmyasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency

Definition

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.