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progressive myoclonus epilepsy 4
Summary
- Synonym
-
- AMRF
- EPM4
- Myoclonus-nephropathy syndrome
- action myoclonus-renal failure syndrome
- Definition
- A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1.
- Super Class
- autosomal recessive disease progressive myoclonus epilepsy
External Links
- Disease Ontology
- DOID:0111444
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase | |
| P04156 | Major prion protein | |
| Q99519 | Sialidase-1 |
