PMC6927060_01
Muscle biopsy H&E x 10. It is observed increased variation in fiber size, with round hypertrophic fibres (*) associated with angular atrophic fibres (arrow). No mitochondrial changes were detected.
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No signs of mitochondrial dysfunction (ragged red fibers, Cox-negative fibers and increased oxidative staining on SDH) were seen (Figure 1).
Brain MRI. Axial FLAIR images show symmetric and confluent increase signal intensity in deep white matter.
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