| Metadata | |
|---|---|
| ID | DOID:0080092 |
| Name | myofibrillar myopathy 1 |
| Definition | A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. https://www.ncbi.nlm.nih.gov/pubmed/23687351, https://www.omim.org/entry/601419 |
| Xrefs | |
| Alternateids |
DOID:0110286 |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
autosomal recessive limb-girdle muscular dystrophy type 2R [EXACT] desminopathy [EXACT] |
| Parent Relationships |