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. Author manuscript; available in PMC: 2016 Jun 9.
Published in final edited form as: Hum Genet. 2015 Nov 5;135(1):21–30. doi: 10.1007/s00439-015-1608-8

Figure 1. Human data.

Figure 1

(A) Pedigree of the study family. (B-E) Histopathological findings on the index’s muscle biopsy. (B) Hematoxylin and eosin stain indicates myopathy, with moderate variation of fiber size and scattered atrophic hypertrophic fibers. (C) Cytochrome oxidase (COX) staining: COX levels are reduced in scattered muscle fibers (double arrows). Other fibers show subsarcolemmal mitochondrial accumulation (single arrow). (D) Succinic dehydrogenase (SDH) staining: Muscle fibers with mitochondrial proliferation stain darkly for SDH. (E) Tricho staining: Ragged red muscle fibers are detected. These cells have mild to moderate mitochondrial proliferation as revealed by Gomori trichrome stain. The sarcoplasm has a red rim and speckled appearance.