title: 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.
authors.affiliation: Department of Neurology, VU University Medical Center, ZH 2A.87, 1007 MB Amsterdam, The Netherlands. jc.reijneveld@vumc.nl
authors.forename: Jaap C
authors.initials: JC
authors.lastname: Reijneveld
authors.forename: Ieke B
authors.initials: IB
authors.lastname: Ginjaar
authors.forename: Wendy S
authors.initials: WS
authors.lastname: Frankhuizen
authors.forename: Nicolette C
authors.initials: NC
authors.lastname: Notermans
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics; D051244:Caveolin 3 / Q000235:genetics* / Q000378:metabolism; D002467:Cell Nucleus / Q000473:pathology; D052283:Creatine Kinase, MM Form / Q000097:blood / Q000378:metabolism*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000201:enzymology* / Q000235:genetics* / Q000503:physiopathology; D015854:Up-Regulation / Q000235:genetics
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D052283:Creatine Kinase, MM Form