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autosomal recessive Emery-Dreifuss muscular dystrophy 3
Summary
- Synonym
-
- EDMD3
- Emery-Dreifuss muscular dystrophy 3, autosomal recessive
- Definition
- An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22.
- Super Class
- Emery-Dreifuss muscular dystrophy autosomal recessive disease
External Links
- Disease Ontology
- DOID:0070248
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02545 | Prelamin-A/C |
