muscle
• 2/3 of mutants aged over 6 months show muscle abnormalities
• mutants are more vulnerable to exercise-induced muscle injury
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• variable fiber size
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• increased skeletal muscle regeneration
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• skeletal muscle exhibits focal changes characteristic of myopathic disorders, including the presence of degenerative fibers, regeneration, and variation in fiber size, with atrophic and split-muscle fibers starting at 13 weeks of age
• changes are more frequent in the back and paraspinal muscles than in other muscle groups
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cardiovascular system
• endothelial cell degeneration in the heart and skeletal muscle
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• some heart and skeletal muscle capillaries are irregular in shape, with intensively folded endothelial membranes
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• perfused hearts show a diminished inotropic response
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