congenital myasthenic syndrome 4C
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 homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13.
MONDO:1040021
congenital myasthenic syndrome 4
is_a
CMS4C
exact
Cms Id
related
congenital myasthenic syndrome associated with acetylcholine receptor deficiency
related
congenital myasthenic syndrome type 4C
exact
myasthenia, familial infantile, 1
related
myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency
related
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
related