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Up to: Congenital myasthenic syndrome 4
Congenital myasthenic syndrome 4A
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
This condition has no sub-types.