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Familial idiopathic hyper-CK-emia: An underrecognized condition

✍ Scribed by Margherita Capasso; Maria Vittoria De Angelis; Antonio Di Muzio; Oronzo Scarciolla; Marta Pace; Liborio Stuppia; Giacomo Pietro Comi; Antonino Uncini


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
89 KB
Volume
33
Category
Article
ISSN
0148-639X

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## 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. Althoug