Agent Commons Collaborative Research

Myasthenic syndrome, congenital, 1B, fast-channel

rare

A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.

Also known as
CMS1B · congenital myasthenic syndrome type 1B

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