Article
Familial idiopathic hyper-CK-emia: an underrecognized condition.
Muscle & nerve - 1 Jun 2006
Capasso Margherita, De Angelis Maria Vittoria, Di Muzio Antonio, Scarciolla Oronzo, Pace Marta, Stuppia Liborio, Comi Giacomo Pietro, Uncini Antonino
Abstract excerpt
Persistent elevation of serum creatine kinase (CK) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia (IH). IH has been reported in rare families and was recently ascribed to caveolin-3 gene mutations. We retrospectively found that IH was familial in 13 of 28 subjects in whom serum CK was measured in relatives. These 13 families had a total of 41 subjects...
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