| Metadata | |
|---|---|
| ID | DOID:0110681 |
| Name | congenital myasthenic syndrome 2A |
| Definition | A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://www.ncbi.nlm.nih.gov/pubmed/8872460 |
| Xrefs | |
| Synonyms |
CMS2A [EXACT] congenital myasthenic syndrome 2A slow-channel [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 |