| Metadata | |
|---|---|
| ID | DOID:0110657 |
| Name | congenital myasthenic syndrome 8 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. https://www.ncbi.nlm.nih.gov/pubmed/19631309, https://www.ncbi.nlm.nih.gov/pubmed/22205389 |
| Xrefs | |
| Synonyms |
CMS8 [EXACT] congenital myasthenic syndrome 8 with pre- and postsynaptic defects [EXACT] congenital myasthenic syndrome due to agrin deficiency [EXACT] |
| Parent Relationships |