Visualize Submit Comment

Metadata
ID	DOID:0110677
Name	congenital myasthenic syndrome 4B
Definition	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://www.ncbi.nlm.nih.gov/pubmed/8755487
Xrefs	MIM:616324
Synonyms	CMS4B [EXACT] congenital myasthenic syndrome 4B fast-channel [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease