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Metadata
ID	DOID:0110681
Name	congenital myasthenic syndrome 2A
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. https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://www.ncbi.nlm.nih.gov/pubmed/8872460
Xrefs	OMIM:616313
Synonyms	CMS2A [EXACT] congenital myasthenic syndrome 2A slow-channel [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal dominant disease