| 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/25792100, https://www.ncbi.nlm.nih.gov/pubmed/10562302 |
| Xrefs | |
| Synonyms |
CMS2C [EXACT] congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |