Congenital myasthenic syndrome 3A

MONDO:0014583

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37.

Also known as: CMS3A, congenital myasthenic syndrome type 3A, myasthenic syndrome, congenital, 3A, slow-channel

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