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MIRAGE
muscular dystrophy-dystroglycanopathy type B4
Summary
- Synonym
-
- MDDGB4
- congenital muscular dystrophy FKTN-related
- Definition
- A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2.
- Super Class
- autosomal recessive disease muscular dystrophy-dystroglycanopathy type B
External Links
- Disease Ontology
- DOID:0112379
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002751 | Kyphoscoliosis |
| HP:0001349 | Facial diplegia |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0001272 | Cerebellar atrophy |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0002350 | Cerebellar cyst |
| HP:0001249 | Intellectual disability |
| HP:0003326 | Myalgia |
| HP:0002119 | Ventriculomegaly |
| HP:0003797 | Limb-girdle muscle atrophy |
