congenital myasthenic syndrome 3C
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.
MONDO:0020344
postsynaptic congenital myasthenic syndrome
is_a
CMS3C
related
congenital myasthenic syndrome type 3C
exact
myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency
related