congenital myasthenic syndrome 4C
Information
- Disease name
- congenital myasthenic syndrome 4C
- Disease ID
- DOID:0110679
- Description
- "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25792100, url:https\://www.ncbi.nlm.nih.gov/pubmed/8957026]
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:608931
- Exact Synonym (Disease Ontology)
- CMS Id
- Exact Synonym (Disease Ontology)
- CMS1D
- Exact Synonym (Disease Ontology)
- CMS4C
- Exact Synonym (Disease Ontology)
- congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
- Exact Synonym (Disease Ontology)
- congenital myasthenic syndrome type Id
- Exact Synonym (Disease Ontology)
- familial infantile myasthenia 1
- Exact Synonym (Disease Ontology)
- FIM1