| Metadata | |
|---|---|
| ID | DOID:0110680 |
| Name | congenital myasthenic syndrome 2C |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/10562302, https://www.ncbi.nlm.nih.gov/pubmed/25792100 |
| Xrefs | |
| Synonyms |
CMS2C [EXACT] congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency [EXACT] |
| Parent Relationships |