Variants
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Elevated circulating creatine kinase concentration

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Description

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

HPO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

29

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Genes

External Links

  • OMIM

    123320

  • Orphanet
  • HPO

    2349

  • Medgen

    C0241005

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