Article
Caveolin-3 deficiency causes muscle degeneration in mice.
Human molecular genetics - 12 Dec 2000
Hagiwara Y, Sasaoka T, Araishi K, Imamura M, Yorifuji H, Nonaka I, Ozawa E, Kikuchi T
Abstract excerpt
Caveolin-3 is a muscle-specific protein integrated in the caveolae, which are small invaginations of the plasma membrane. Mutations of the caveolin-3 gene, localized at 3p25, have been reported to be involved in the pathogenesis of limb-girdle muscular dystrophy (LGMD1C or caveolinopathy) with mild clinical symptoms, inherited through an autosomal dominant form of genetic transmission. To elucidate the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
