congenital myasthenic syndrome 9

Term ID

DOID:0110670

Synonyms

• CMS9
• congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (2)

References

• OMIM:616325

Ontology

Human Disease   ( DOID:0110670 )