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CAV3 gene mutation analysis in patients with idiopathic hyper‐CK‐emia
Author(s) -
Reijneveld Jaap C.,
Ginjaar Ieke B.,
Frankhuizen Wendy S.,
Notermans Nicolette C.
Publication year - 2006
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20593
Subject(s) - immunohistochemistry , medicine , caveolin 3 , pathology , mutation , gene , biology , genetics , caveolae , membrane
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