| Metadata | |
|---|---|
| ID | DOID:0080090 |
| Name | reducing body myopathy 1A |
| Definition | A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/17099882/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a myopathy |