| Metadata | |
|---|---|
| ID | DOID:0110665 |
| Name | congenital myasthenic syndrome 3B |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://www.ncbi.nlm.nih.gov/pubmed/11435464 |
| Xrefs | |
| Synonyms |
CMS3B [EXACT] congenital myasthenic syndrome 3B, fast-channel [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some progressive weakness has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth has symptom some muscle weakness |