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myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 (DOID:0061184)
Alliance: disease page
Alt IDs: OMIM:620971
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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10/07/2025
MGI 6.24 		The Jackson Laboratory