| Metadata | |
|---|---|
| ID | DOID:0110668 |
| Name | congenital myasthenic syndrome 10 |
| Definition | A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. https://www.ncbi.nlm.nih.gov/pubmed/16917026, https://www.ncbi.nlm.nih.gov/pubmed/25792100, https://pubmed.ncbi.nlm.nih.gov/22884442/ |
| Xrefs | |
| Alternateids |
DOID:0110638 |
| Synonyms |
CMS10 [EXACT] congenital muscular dystrophy merosin-positive [EXACT] familial limb-girdle myasthenia [EXACT] LGM [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has symptom some limb weakness has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |