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.
MONDO:0020344
postsynaptic congenital myasthenic syndrome
is_a
CMS2C
exact
congenital myasthenic syndrome type 2C
exact
myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency
related