Myasthenic syndrome, congenital, 1B, fast-channel

MONDO:0012156

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, myasthenic syndrome, congenital, 1B, fast-channel, congenital myasthenic syndrome 1B, myasthenic syndrome, congenital, 1B, FAST-channel

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neuromuscular disease (106) Syndromic disease (25) Human disease (14) Hereditary neurological disease (6) Congenital myasthenic syndrome (5) Hereditary neuromuscular disease (3) Disease of genetic or genomic mechanism (2)

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