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. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149

Figure 1. Pedigrees and histopathologic findings of patients harboring RNASEH1 c.424G>A p.Val142Ile mutations.

Figure 1

(A) Pedigrees of families harboring RNASEH1 mutations. Filled blue symbols represent affected individuals. Arrows indicate probands. Long range PCR (LPCR) and Southern blot (SB) demonstrate multiple deletions of muscle mitochondrial DNA (B-II.8) in patient (P) when compared with control muscle (C). (B) Muscle biopsy histology (A-III.8) demonstrating ragged red fibers (modified Gomori trichrome, GT), ragged blue fibers (succinate dehydrogenase, SDH), and several muscle fibers deficient in cytochrome c oxidase (COX), arrows. Scale bar represents 50 μm in GT and 200 μm in SDH and COX. (C) Ultrastructural examination (A-III.8) showing increased numbers of mitochondria, many of which are structurally abnormal, including the presence of paracrystalline inclusions, arrows. Scale bar represents 1 μm.