Term Name: | congenital myasthenic syndrome 3B |
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Synonyms: | CMS3B, congenital myasthenic syndrome 3B, fast-channel |
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. |
Ontology: | Human Disease [DOID:0110665] ( DOID:0110665 ) |