congenital myasthenic syndrome 3B

Term ID

DOID:0110665

Synonyms

CMS3B
congenital myasthenic syndrome 3B, fast-channel

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (2)

References

MIM:616322

Ontology

Human Disease ( DOID:0110665 )

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