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Figure 2 Muscle pathology of patients 2, 26, 11, 9, 32, and 48

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1 Figure 2 Muscle pathology of patients 2, 26, 11, 9, 32, and 48
Muscle pathology of patients 2, 26, 11, 9, 32, and 48 (A) Markedly increased lipid droplets in both number and size were observed in patient 2 with homozygous SLC25A20 mutations (oil red O). (B) Forty percent myofibers with centralized nuclei were found in patient 26 with compound heterozygous RYR1 mutations (hematoxylin and eosin). (C) Multiminicore pattern was observed in patient 11 with compound heterozygous SEPN1 mutations (nicotinamide adenine dinucleotide tetrazolium reductase). (D) Prominent nemaline rods were seen in patient 9 with heterozygous ACTA1 mutations (modified Gomori trichrome). (E) Nonspecific myopathic change except for internalized nuclei and mild fiber size variation was shown in patient 32 with compound heterozygous TCAP mutations (hematoxylin and eosin). (F) Similar to patient 9, typical intracytoplasmic nemaline rods were present in patient 48 with compound heterozygous NEB mutations (modified Gomori trichrome). Xia Tian et al. Neurol Genet 2015;1:e14 © 2015 American Academy of Neurology

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