Ryanodine receptorā€associated myopathies: What's myosin got to do with it?

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    • Abstract:
      This article discusses the role of the ryanodine receptor (RyR) in skeletal muscle and its connection to myosin, a protein involved in muscle contraction. Genetic variants of the RYR1 gene can affect the release of calcium from the sarcoplasmic reticulum, leading to altered muscle contraction and potentially causing congenital myopathies. The study examines the post-translational modifications of myosin in patients with RYR1-related myopathies and suggests that these modifications may contribute to the pathophysiology of the disease. The authors propose that changes in the intracellular environment, including altered calcium handling, can have secondary effects on myosin structure and function, impacting muscle contractility. [Extracted from the article]
    • Abstract:
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