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

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 muscle...

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Detalles Bibliográficos
Autores principales: Shah, Dinesh S., Nisr, Raid B., Stretton, Clare, Krasteva‐Christ, Gabriela, Hundal, Harinder S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7296273/
https://www.ncbi.nlm.nih.gov/pubmed/32090499
http://dx.doi.org/10.1002/jcsm.12541

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