congenital myasthenic syndrome 2A

Term ID

DOID:0110681

Synonyms

• CMS2A
• congenital myasthenic syndrome 2A slow-channel

Definition

A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (2)

References

• OMIM:616313

Ontology

Human Disease   ( DOID:0110681 )