Term Name: | congenital myasthenic syndrome 1A |
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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 ) |