RYR1-related congenital myopathies (RYR1-RM) result from pathogenic mutations in the ryanodine receptor isoform-1 (RYR1) gene where consequent RyR1 protein calcium dysregulation leads to impaired excitation-contraction coupling, oxidative and nitrosative stress, and mitochondrial depletion. These physiological deficits perpetuate RyR1 dysfunction causing further muscle injury, muscle weakness, and muscle fatigue. Muscle weakness and fatigue are the two primary complaints in patients with RYR1-RM, and are major symptoms that limit the ability of individuals to perform activities of daily living.

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