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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
myofibrillar myopathy 1
Summary
- Synonym
-
- autosomal recessive limb-girdle muscular dystrophy type 2R
- desminopathy
- Definition
- A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35.
- Super Class
- autosomal dominant disease autosomal recessive disease myofibrillar myopathy
External Links
- Disease Ontology
- DOID:0080092
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
