Term Name: congenital myasthenic syndrome 3A
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 )

Relationships
is a type of: autosomal dominant disease congenital myasthenic syndrome