congenital myasthenic syndrome 11

Term ID

DOID:0110675

Synonyms

• CMS Ie
• CMS11
• CMS1E
• congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency
• congenital myasthenic syndrome 1e

Definition

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (2)

References

• OMIM:616326

Ontology

Human Disease   ( DOID:0110675 )