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

• OMIM:616322

Ontology

Human Disease   ( DOID:0110665 )