A-Z of Neurological Practice: I
Larner, Andrew J.; Coles, Alasdair J.; Scolding, Neil J.; Barker, Roger A.
2010-09-22 00:00:00
[This term was coined for persistently elevated serum levels of creatine kinase (CK) in apparently healthy individuals. A number of such individuals will harbor subclinical neuromuscular disease which may be elucidated by muscle biopsy, but some remain entirely normal, thereby meriting the diagnosis of “idiopathic hyperCKemia.” Cases with mutations of the caveolin 3 (CAV3) gene have been described, a condition that is allelic with rippling muscle disease (RMD), limb-girdle muscular dystrophy type 1C, and long QT syndrome type 9.]
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[This term was coined for persistently elevated serum levels of creatine kinase (CK) in apparently healthy individuals. A number of such individuals will harbor subclinical neuromuscular disease which may be elucidated by muscle biopsy, but some remain entirely normal, thereby meriting the diagnosis of “idiopathic hyperCKemia.” Cases with mutations of the caveolin 3 (CAV3) gene have been described, a condition that is allelic with rippling muscle disease (RMD), limb-girdle muscular dystrophy type 1C, and long QT syndrome type 9.]
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