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autosomal recessive limb-girdle muscular dystrophy type 2I
Summary
- Synonym
-
- LGMD2I
- Limb-girdle muscular dystrophy due to FKRP deficiency
- MDDGC5
- muscular dystrophy limb-girdle type 2I
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
- muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110299
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002515 | Waddling gait |
| HP:0009046 | Difficulty running |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0003701 | Proximal muscle weakness |
| HP:0003394 | Muscle spasm |
| HP:0005162 | Abnormal left ventricular function |
| HP:0001771 | Achilles tendon contracture |
| HP:0002948 | Vertebral fusion |
| HP:0000158 | Macroglossia |
