| Metadata | |
|---|---|
| ID | DOID:0110663 |
| Name | congenital myasthenic syndrome 1A |
| Definition | A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. https://www.ncbi.nlm.nih.gov/pubmed/7619526, https://www.ncbi.nlm.nih.gov/pubmed/25792100 |
| Xrefs | |
| Synonyms |
CMS IIa [EXACT] CMS1A [EXACT] congenital myasthenic syndrome 1A, slow-channel [EXACT] congenital myasthenic syndrome type IIa [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some progressive weakness has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |