Caveolin‐3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function

• Main Authors: Dinesh S. Shah (Author), Raid B. Nisr (Author), Clare Stretton (Author), Gabriela Krasteva‐Christ (Author), Harinder S. Hundal (Author)
• Formato: Livro
• Publicado em: Wiley, 2020-06-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Caveolin‐3 (Cav3) is the principal structural component of caveolae in skeletal muscle. Dominant pathogenic mutations in the Cav3 gene, such as the Limb Girdle Muscular Dystrophy‐1C (LGMD1C) P104L mutation, result in substantial loss of Cav3 and myopathic changes characterized by...