Human genes for congenital myasthenic syndrome 1A
Congenital myasthenic syndrome 1A [DOID:0110663]
A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q.
Synonyms: congenital myasthenic syndrome 1A, DOID:0110663, CMS1A, CMS IIa, congenital myasthenic syndrome 1A, slow-channel ...