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myofibrillar myopathy 3
Summary
- Synonym
-
- LGMD 1A
- autosomal dominant limb-girdle muscular dystrophy type 1A
- myotilinopathy
- spheroid body myopathy
- Definition
- A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31.
- Super Class
- autosomal dominant disease myofibrillar myopathy
External Links
- Disease Ontology
- DOID:0080094
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2023 | ENO1 | enolase 1 | |
| 2218 | FKTN | fukutin | |
| 2710 | GK | glycerol kinase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 3612 | IMPA1 | inositol monophosphatase 1 | |
| 3633 | INPP5B | inositol polyphosphate-5-phosphatase B | |
| 3958 | LGALS3 | galectin 3 | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
