Key result
A 46-year-old man with acute myocardial infarction had an extremely low serum creatine kinase level and absent CK-MM in skeletal muscle, representing the first reported case of familial CK deficiency.
Case Report (n=1)
No
This case report demonstrates that acute myocardial infarction can occur without typical creatine kinase elevation in patients with familial creatine kinase deficiency.
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Absent CK elevation in AMI may signal familial CK deficiency; extends known phenotypes but leaves open prevalence and diagnostic impact.
A 46-year-old male patient was diagnosed as suffering from acute myocardial infarction, but his serum creatine kinase (CK) level was extremely low and no CK isozymes were detected in the serum. The total CK activities in the skeletal muscle amounted to only 2% of that of the control. Electrophoresis of the CK isozymes in the skeletal muscle showed that CK-MM was absent but the CK-BB and abnormal isozyme bands were present. There was no evidence of myocardial ischemia, although the exercise treadmill test revealed ST segment depression in the chest leads. One of the patient's sisters had an extremely low serum CK level suggesting inheritance of this abnormality. This is the first report of a case showing familial deficiency of CK.
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Shibuya et al. (1992) conducted a case report in Acute myocardial infarction with familial deficiency of creatine kinase (n=1). Familial deficiency of creatine kinase was evaluated on Serum creatine kinase (CK) level and CK isozymes. A 46-year-old man with acute myocardial infarction had an extremely low serum creatine kinase level and absent CK-MM in skeletal muscle, representing the first reported case of familial CK deficiency.
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