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Metadata
ID	DOID:0110666
Name	congenital myasthenic syndrome 3A
Definition	A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/11782989, https://www.ncbi.nlm.nih.gov/pubmed/25792100
Xrefs	MIM:616321
Synonyms	CMS3A [EXACT] congenital myasthenic syndrome 3A, slow-channel [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal dominant disease