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MIRAGE
autosomal recessive limb-girdle muscular dystrophy type 2K
Summary
- Synonym
-
- LGMD2K
- MDDGC1
- limb-girdle muscular dystrophy-intellectual disability syndrome
- muscular dystrophy limb-girdle type 2K
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110297
- Mondo Disease Ontology
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0002027 | Abdominal pain |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0001249 | Intellectual disability |
| HP:0003391 | Gowers sign |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0002515 | Waddling gait |
| HP:0000729 | Autistic behavior |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0003701 | Proximal muscle weakness |
