Search Ontology:
Human Disease
congenital myopathy 28
- Term ID
- DOID:0061259
- Synonyms
-
- congenital myopathy 28 with rigid spine
- Definition
- A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the 3-hydroxy-3-methylglutaryl-CoA synthase 1 gene on chromosome 5p12. https://pubmed.ncbi.nlm.nih.gov/39531736/
- References
- Ontology
- Human Disease ( DOID:0061259 )
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Genes Involved
Zebrafish Models