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Human Disease

congenital myasthenic syndrome 3A

Term ID
DOID:0110666
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. (2)
References
Ontology
Human Disease   ( DOID:0110666 )
Relationships
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Genes Involved
Zebrafish Models