| Metadata | |
|---|---|
| ID | DOID:0110666 |
| Name | congenital myasthenic syndrome 3A |
| Definition | A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://www.ncbi.nlm.nih.gov/pubmed/11782989 |
| Xrefs | |
| Synonyms |
CMS3A [EXACT] congenital myasthenic syndrome 3A, 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 |