Congenital myasthenic syndrome 2C

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.

Also known as: CMS2C, congenital myasthenic syndrome type 2C, myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency

0 clinical trials for this condition and its sub-types.