PMC6657224_01
The fiber size was variable and fiber shapes were mildly irregular in Hematoxylin-eosin staining. There was one clear RRF (x20), bar = 100mu.
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F1
Electrocardiogram, a computed tomography scan of the chest and Magnetic Resonance Imaging of the head and cervical spinal cord were normal (Figure S1). The fiber size was variable and fiber shapes were mildly irregular by Hematoxylin-eosin staining (Figure 1). Some RRF were evident as shown in Figure 1.
Mitochondrial DNA sequencing revealed the A3243G point mutation in the mitochondrial tRNALeucine gene.
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F2
Schiff (PAS), oil red O (ORO), and Adenosine Triphosphate (ATP) synthase. Screening for putative point mutation by polymerase chain reaction (PCR) revealed an A3243G mutation (88%) in the mitochondrial tRNALeu gene from total DNA extracted from the peripheral blood specimen (Figure 2).