Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

被引：106

作者：

Carbone, I

Bruno, C

Sotgia, F

Bado, M

Broda, P

Masetti, E

Panella, A

Zara, F

Bricarelli, FD

Cordone, G

Lisanti, MP

Minetti, C

机构：

[1] Univ Genoa, Ist Giannina Gaslini, Dipartimento Pediat, Serv Malattie Neuromuscolari, I-16147 Genoa, Italy

[2] Albert Einstein Coll Med, Dept Mol Pharmacol, Bronx, NY 10467 USA

[3] EO Osped Galliera, Lab Genet Umana, Genoa, Italy

来源：

NEUROLOGY | 2000年 / 54卷 / 06期

关键词：

caveolin-3; CAV3; gene; hyperCKemia;

D O I：

10.1212/WNL.54.6.1373

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum creatine kinase (hyperCKemia) without muscle weakness. Immunohistochemistry and quantitative immunoblot analysis of caveolin-3 showed reduced expression of the protein in muscle fibers. Our data indicate that a partial caveolin-3 deficiency should be considered in the differential diagnosis of idiopathic hyperCKemia.

引用

页码：1373 / 1376

页数：4

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