(Q32139946)
English
congenital myasthenic syndrome 1B
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
- MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
- CMS1B
- congenital myasthenic syndrome type 1B
- congenital myasthenic syndrome 1B, fast-channel
- MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B
Statements
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Identifiers
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1 reference