congenital myasthenic syndrome 2C

Rare Disease

MONDO:0014582

Also Known As

CMS2Ccongenital myasthenic syndrome 2C associated with acetylcholine receptor deficiencycongenital myasthenic syndrome type 2Cmyasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency

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 ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13.