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

MIM:616326

Ontology

Human Disease ( DOID:0110675 )

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