Term Name: | isolated elevated serum creatine phosphokinase levels |
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Synonyms: | elevated serum CPK, idiopathic hyperCKemia, isolated hyperCKemia |
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. |
Ontology: | Human Disease [DOID:0111338] ( DOID:0111338 ) |