| Metadata | |
|---|---|
| ID | DOID:0110678 |
| Name | congenital myasthenic syndrome 4A |
| Definition | A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/12141316, https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://www.ncbi.nlm.nih.gov/pubmed/7531341 |
| Xrefs | |
| Synonyms |
CMS Ia1 [EXACT] CMS1A1 [EXACT] CMS4A [EXACT] congenital myasthenic syndrome 4A slow-channel [EXACT] congenital myasthenic syndrometype Ia1 [EXACT] |
| Parent Relationships |
is_a congenital myasthenic syndrome |