| Metadata | |
|---|---|
| ID | DOID:0110662 |
| Name | congenital myasthenic syndrome 1B |
| Definition | A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with 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/25792100, https://www.ncbi.nlm.nih.gov/pubmed/10195214, https://www.ncbi.nlm.nih.gov/pubmed/15079006 |
| Xrefs | |
| Synonyms |
CMS1B [EXACT] congenital myasthenic syndrome 1B, fast-channel [EXACT] |
| Parent Relationships |
is_a congenital myasthenic syndrome |
| Subclass Logical Relationships |
has symptom some progressive weakness has material basis in some autosomal dominant inheritance has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |