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autosomal recessive limb-girdle muscular dystrophy type 2M
Summary
- Synonym
-
- LGMD2M
- MDDGC4
- muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
- Definition
- An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31.
- Super Class
- autosomal recessive limb-girdle muscular dystrophy
External Links
- Disease Ontology
- DOID:0110296
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 120071 | LARGE2 | LARGE xylosyl- and glucuronyltransferase 2 | |
| 124872 | B4GALNT2 | beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002359 | Frequent falls |
| HP:0003701 | Proximal muscle weakness |
| HP:0001265 | Hyporeflexia |
| HP:0011727 | Peroneal muscle weakness |
| HP:0003391 | Gowers sign |
| HP:0000767 | Pectus excavatum |
| HP:0003593 | Infantile onset |
| HP:0001371 | Flexion contracture |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0003307 | Hyperlordosis |
