congenital myasthenic syndrome 1A

Term ID

DOID:0110663

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. (2)

References

• MIM:601462

Ontology

Human Disease   ( DOID:0110663 )