Congenital myasthenic syndrome 3C
Congenital myasthenic syndrome 3C
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.
Also known as congenital myasthenic syndrome type 3C — per MONDO