Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Congenital myasthenic syndrome 4
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.
This condition has no sub-types.