Term Name: | congenital myasthenic syndrome 3A |
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Synonyms: | CMS3A, congenital myasthenic syndrome 3A, slow-channel |
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. |
Ontology: | Human Disease [DOID:0110666] ( DOID:0110666 ) |