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ID	DOID:0110665
PURL	http://purl.obolibrary.org/obo/DOID_0110665 Copy Copied!
Name	congenital myasthenic syndrome 3B
Definition	A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/11435464, https://www.ncbi.nlm.nih.gov/pubmed/25792100
Xrefs	MIM:616322
Synonyms	CMS3B [EXACT] congenital myasthenic syndrome 3B, fast-channel [EXACT]
Parent Relationships	is_a congenital myasthenic syndrome is_a autosomal recessive disease