congenital myasthenic syndrome 13
Information
- Disease name
- congenital myasthenic syndrome 13
- Disease ID
- DOID:0110676
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16870884, url:https\://www.ncbi.nlm.nih.gov/pubmed/22742743]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:3635
- Cross Reference ID (Disease Ontology)
- MIM:614750
- Exact Synonym (Disease Ontology)
- CMS13
- Exact Synonym (Disease Ontology)
- CMSTA2
- Exact Synonym (Disease Ontology)
- congenital myasthenic syndrome 13 with tubular aggregates
- Exact Synonym (Disease Ontology)
- congenital myasthenic syndrome with tubular aggregates 2