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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Vydáno v:J Cachexia Sarcopenia Muscle
Hlavní autoři: Shah, Dinesh S., Nisr, Raid B., Stretton, Clare, Krasteva‐Christ, Gabriela, Hundal, Harinder S.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2020
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7296273/
https://ncbi.nlm.nih.gov/pubmed/32090499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcsm.12541
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