Article
Biochemical and pathological changes result from mutated Caveolin-3 in muscle.
Skeletal muscle - 28 Aug 2018
González Coraspe José Andrés, Weis Joachim, Anderson Mary E, Münchberg Ute, Lorenz Kristina, Buchkremer Stephan, Carr Stephanie, Zahedi René Peiman, Brauers Eva, Michels Hannah, Sunada Yoshihide, Lochmüller Hanns, Campbell Kevin P, Freier Erik, Hathazi Denisa, Roos Andreas
Abstract excerpt
BACKGROUND: Caveolin-3 (CAV3) is a muscle-specific protein localized to the sarcolemma. It was suggested that CAV3 is involved in the connection between the extracellular matrix (ECM) and the cytoskeleton. Caveolinopathies often go along with increased CK levels indicative of sarcolemmal damage. So far, more than 40 dominant pathogenic mutations have been described leading to several phenotypes many of which are...
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