Search Ontology:
Human Disease
congenital myopathy 27
- Term ID
- DOID:0061258
- Synonyms
-
- Definition
- A congenital myopathy characterized by exercise intolerance and early fatigue that has_material_basis_in homozygous or compound heterozygous mutation in the PACSIN3 gene on chromosome 11p11. https://pubmed.ncbi.nlm.nih.gov/38637313/
- References
- Ontology
- Human Disease ( DOID:0061258 )
Other Pages
Genes Involved
Zebrafish Models