| Metadata | |
|---|---|
| ID | DOID:0110676 |
| Name | congenital myasthenic syndrome 13 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/16870884, https://www.ncbi.nlm.nih.gov/pubmed/22742743 |
| Xrefs | |
| Synonyms |
CMS13 [EXACT] CMSTA2 [EXACT] congenital myasthenic syndrome 13 with tubular aggregates [EXACT] congenital myasthenic syndrome with tubular aggregates 2 [EXACT] |
| Parent Relationships |