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isolated elevated serum creatine phosphokinase levels (DOID:0111338)
Alliance: disease page
Synonyms: elevated serum CPK; idiopathic hyperCKemia; isolated hyperCKemia
Alt IDs: OMIM:123320
Definition: An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.


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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory