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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 |
|---|---|---|---|
| 5373 | PMM2 | phosphomannomutase 2 | |
| 5553 | PRG2 | proteoglycan 2, pro eosinophil major basic protein | |
| 6383 | SDC2 | syndecan 2 | |
| 6476 | SI | sucrase-isomaltase | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 8818 | DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8871 | SYNJ2 | synaptojanin 2 | |
| 8972 | MGAM | maltase-glucoamylase | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
