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isolated elevated serum creatine phosphokinase levels
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0111338
- Mondo Disease Ontology
- OMIM
