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autosomal dominant Emery-Dreifuss muscular dystrophy 2
Summary
- Synonym
-
- EDMD2
- EMD2
- Emery-Dreifuss muscular dystrophy 2, autosomal dominant
- Emery-Dreifuss muscular dystrophy, autosomal dominant
- Hauptmann-Thannhauser muscular dystrophy
- autosomal dominant limb-girdle muscular dystrophy type 1B
- muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
- scapuloilioperoneal atrophy with cardiopathy
- Definition
- An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.
- Super Class
- Emery-Dreifuss muscular dystrophy autosomal dominant disease
External Links
- Disease Ontology
- DOID:0070247
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 178 | AGL | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 1119 | CHKA | choline kinase alpha | |
| 1120 | CHKB | choline kinase beta | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1634 | DCN | decorin | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 1800 | DPEP1 | dipeptidase 1 |
Related Glycoprotein
