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, 34 (5), 656-8

CAV3 Gene Mutation Analysis in Patients With Idiopathic hyper-CK-emia

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CAV3 Gene Mutation Analysis in Patients With Idiopathic hyper-CK-emia

Jaap C Reijneveld et al. Muscle Nerve.

Abstract

As caveolin-3 deficiencies may explain persistent hyper-CK-emia, we performed CAV3 gene mutation analysis and immunohistochemistry for caveolin-3 in 31 patients with idiopathic hyper-CK-emia. In 2 of 29 patients who donated blood, variants in the CAV3 gene were detected. Although immunohistochemical analysis strongly suggested that caveolin-3 was properly localized in the muscle tissue of the two affected patients, it may not function normally and could thus explain their persistent hyper-CK-emia. Our findings contribute to the clarification of unexplained persistent hyper-CK-emia, but further research is needed before CAV3 gene mutation analysis becomes part of the routine evaluation of these patients.

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