Publications by authors named "Gry Hatting Beha"

Article Synopsis
  • * Researchers compared 15 individuals with RYR1 variants to 15 matched healthy controls using MRI and dynamometry, finding no significant differences in muscle strength or structure.
  • * The findings suggest that most individuals with RYR1-related rhabdomyolysis/myalgia exhibit normal muscle strength and function, indicating they represent a mild phenotype of these myopathies.
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Background: McArdle disease is caused by myophosphorylase deficiency leading to blocked glycogenolysis in skeletal muscle. Consequently, individuals with McArdle disease have intolerance to physical activity, muscle fatigue, and pain. These symptoms vary according to the availability of alternative fuels for muscle contraction.

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