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

• OMIM:616321

Ontology

Human Disease   ( DOID:0110666 )