Search Ontology:
Human Disease
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
- Term ID
- DOID:0061184
- Synonyms
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- Definition
- A muscular disease characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life that has_material_basis_in heterozygous mutation in the DTNA gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/36799992/
- References
- Ontology
- Human Disease ( DOID:0061184 )
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Genes Involved
Zebrafish Models