Term Name:	congenital myasthenic syndrome 1B
Synonyms:	CMS1B, congenital myasthenic syndrome 1B, fast-channel
Definition:	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.
Ontology:	Human Disease [DOID:0110662] ( DOID:0110662 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease congenital myasthenic syndrome