Abstract
The authors analyzed muscle biopsy specimens of 104 patients with creatine kinase activity greater than 500 UI/L (normal 10 to 170 UI/L) without signs of muscle weakness. They achieved a definite or probable diagnosis in 55% of cases. The most frequently identified diseases were glycogen storage diseases, muscular dystrophies, and inflammatory myopathies. The probability of making a diagnosis was higher in children and when creatine kinase level was greater than 2,000 UI/L.
MeSH terms
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Adolescent
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Adult
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Aged
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Biomarkers
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Biopsy
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Child
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Child, Preschool
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Cohort Studies
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Creatine Kinase, MM Form / blood*
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Dystrophin / deficiency
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Fatigue / blood
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Fatigue / etiology
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Female
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Glycogen Storage Disease Type II / blood
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Glycogen Storage Disease Type II / diagnosis
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Glycogen Storage Disease Type V / blood
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Glycogen Storage Disease Type V / diagnosis
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Humans
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Male
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Middle Aged
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Muscle Cramp / blood
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Muscle Cramp / etiology
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Muscle, Skeletal / enzymology
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Muscle, Skeletal / pathology
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Neuromuscular Diseases / blood*
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Neuromuscular Diseases / diagnosis
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Retrospective Studies
Substances
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Biomarkers
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Dystrophin
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Creatine Kinase, MM Form