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congenital muscular dystrophy due to LMNA mutation
Summary
- Synonym
-
- L-CMD
- LMNA-related congenital muscular dystrophy
- congenital muscular dystrophy LMNA-related
- Definition
- A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22.
- Super Class
- autosomal dominant disease congenital muscular dystrophy
External Links
- Disease Ontology
- DOID:0110640
- 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 | |
| 9200 | HACD1 | 3-hydroxyacyl-CoA dehydratase 1 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 64419 | MTMR14 | myotubularin related protein 14 | |
| 79147 | FKRP | fukutin related protein |
Related Glycoprotein
