Term Name: congenital myasthenic syndrome 1A
Synonyms: CMS IIa, CMS1A, CMS2A, congenital myasthenic syndrome 1A, slow-channel, congenital myasthenic syndrome type IIa
Definition: 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.
Ontology: Human Disease [DOID:0110663]   ( DOID:0110663 )

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