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CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia

✍ Scribed by Jaap C. Reijneveld; Ieke B. Ginjaar; Wendy S. Frankhuizen; Nicolette C. Notermans

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 64 KB
Volume: 34
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.20593

No coin nor oath required. For personal study only.

✦ Synopsis

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. Muscle Nerve, 2006

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