Visualize Submit Comment

Metadata
ID	DOID:0110662
Name	congenital myasthenic syndrome 1B
Definition	A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. https://www.ncbi.nlm.nih.gov/pubmed/10195214, https://www.ncbi.nlm.nih.gov/pubmed/15079006, https://www.ncbi.nlm.nih.gov/pubmed/25792100
Xrefs	OMIM:608930
Synonyms	CMS1B [EXACT] congenital myasthenic syndrome 1B, fast-channel [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease is_a autosomal dominant disease