isolated elevated serum creatine phosphokinase levels

Term ID

DOID:0111338

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. (2)

References

• MIM:123320

Ontology

Human Disease   ( DOID:0111338 )