Article
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
Muscle & nerve - 1 Sept 2004
Fee Dominic B, So Yuen T, Barraza Carlos, Figueroa Karla P, Pulst Stefan-M
Abstract excerpt
Caveolin3 (CAV3) is a protein associated with dystrophin, dystrophin-associated glycoproteins, and dysferlin. Mutations in the CAV3 gene result in certain autosomal-dominant inherited diseases, namely, rippling muscle disease (RMD), limb-girdle muscular dystrophy type 1C (LGMD1C), distal myopathy, and hyperCKemia. In this report we show that a previously reported family with RMD has a mutation in the CAV3 gene....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.