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.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Reijneveld JC,Ginjaar IB,Frankhuizen WS,Notermans NCdoi
10.1002/mus.20593subject
Has Abstractpub_date
2006-11-01 00:00:00pages
656-8issue
5eissn
0148-639Xissn
1097-4598journal_volume
34pub_type
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