congenital myasthenic syndrome 4B

Term ID

DOID:0110677

Synonyms

• CMS4B
• congenital myasthenic syndrome 4B fast-channel

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (2)

References

• OMIM:616324

Ontology

Human Disease   ( DOID:0110677 )