congenital myasthenic syndrome 1A
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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
congenital myasthenic syndrome 1A
- CMS IIa
- CMS1A
- congenital myasthenic syndrome 1A, slow-channel
- congenital myasthenic syndrome type IIa
disease_ontology
DOID:0110663