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hyperCKemia (elevated serum creatine phosphokinase)

Pathology: - no evidence of neuromuscular disease - muscle biopsy and exercise lactic acid production are normal Genetics: - associated with defects in caveoalin-3 (CAV3) Clinical manifestations: - patients may describe muscle cramps with exertion - no muscle weakness Laboratory: - persistent elevated levels of serum creatine kinase Complications: - familial trait that can plague a physician & geneticist counseling a family with muscular dystrophy

General

muscular disease; myopathy

Database Correlations

OMIM 123320

References

  1. OMIM :accession 123320