| Metadata | |
|---|---|
| ID | DOID:0110660 |
| Name | congenital myasthenic syndrome 12 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. https://www.ncbi.nlm.nih.gov/pubmed/21310273, https://www.ncbi.nlm.nih.gov/pubmed/12467753 |
| Xrefs | |
| Synonyms |
CMS12 [EXACT] congenital myasthenia 12 with tubular aggregates [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 |