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autosomal recessive limb-girdle muscular dystrophy type 2H
Summary
- Synonym
-
- LGMD2H
- limb-girdle muscular dystrophy due to TRIM32 deficiency
- muscular dystrophy Hutterite type
- sarcotubular myopathy
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110282
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5837 | PYGM | glycogen phosphorylase, muscle associated | |
| 6383 | SDC2 | syndecan 2 | |
| 6476 | SI | sucrase-isomaltase | |
| 6484 | ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | |
| 6519 | SLC3A1 | solute carrier family 3 member 1 | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 8818 | DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | |
| 8867 | SYNJ1 | synaptojanin 1 | |
| 8871 | SYNJ2 | synaptojanin 2 |
Related Glycoprotein
