| Metadata | |
|---|---|
| ID | DOID:0110670 |
| Name | congenital myasthenic syndrome 9 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/15496425, https://www.ncbi.nlm.nih.gov/pubmed/25792100 |
| Xrefs | |
| Synonyms |
CMS9 [EXACT] congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency [EXACT] |
| Parent Relationships |