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Human Disease

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
Ontology
Human Disease   ( DOID:0110675 )
Relationships
is a type of
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Genes Involved
Zebrafish Models