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

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...

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Auteurs principaux: Dinesh S. Shah, Raid B. Nisr, Clare Stretton, Gabriela Krasteva‐Christ, Harinder S. Hundal
Format: Artigo
Langue:Inglês
Publié: Wiley 2020-06-01
Collection:Journal of Cachexia, Sarcopenia and Muscle
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Accès en ligne:https://doi.org/10.1002/jcsm.12541
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