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autosomal recessive limb-girdle muscular dystrophy type 2C
Summary
- Synonym
-
- DMDA1
- LGMD2C
- Maghrebian myopathy
- SCARMD
- autosomal recessive Duchenne-like muscular dystrophy type 1
- deficiency of sarcoglycan gamma
- gamma-sarcoglycanopathy
- limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
- muscular dystrophy, limb-girdle, type 2C
- severe childhood autosomal recessive muscular dystrophy North African type
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110277
- 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 | |
| 6783 | SULT1E1 | sulfotransferase family 1E member 1 | |
| 8813 | DPM1 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | |
| 8818 | DPM2 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | |
| 8867 | SYNJ1 | synaptojanin 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2X0 | Dolichol-phosphate mannosyltransferase subunit 3 | |
| Q9UKY4 | Protein O-mannosyl-transferase 2 | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 | |
| Q9Y5P6 | Mannose-1-phosphate guanyltransferase beta | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
