| Metadata | |
|---|---|
| ID | DOID:0110675 |
| Name | congenital myasthenic syndrome 11 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12651869, https://www.ncbi.nlm.nih.gov/pubmed/25792100 |
| Xrefs | |
| Synonyms |
CMS Ie [EXACT] CMS11 [EXACT] CMS1E [EXACT] congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency [EXACT] congenital myasthenic syndrome 1e [EXACT] |
| Parent Relationships |