Term Name: congenital myasthenic syndrome 3B
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.
Ontology: Human Disease [DOID:0110665]   ( DOID:0110665 )

Relationships
is a type of: autosomal recessive disease congenital myasthenic syndrome