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

MIM:616324

Ontology

Human Disease ( DOID:0110677 )

Relationships

is a type of: autosomal recessive disease congenital myasthenic syndrome

autosomal recessive disease congenital myasthenic syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models