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

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 Nerve

journal_title

Muscle & nerve

authors

Reijneveld JC,Ginjaar IB,Frankhuizen WS,Notermans NC

doi

10.1002/mus.20593

subject

Has Abstract

pub_date

2006-11-01 00:00:00

pages

656-8

issue

5

eissn

0148-639X

issn

1097-4598

journal_volume

34

pub_type

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