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. Author manuscript; available in PMC: 2012 Jun 1.
Published in final edited form as: Hum Mutat. 2011 Apr 7;32(6):669–677. doi: 10.1002/humu.21488

Figure 5.

Figure 5

Histopathologic findings of lateral gastrocnemius muscle in patient III-16. (A) A frozen section showing marked variation of fiber size and shape with many small rounded fibers, and degenerating fibers. Endomysial fibrosis was prominent on the background of degenerating myofibers without inflammatory cell infiltration by H&E stain. (B) Grouping of histochemical fiber types. ATPase reaction with different pH preincubation and immunostaining with myosin heavy chain (fast), myosin heavy chain (slow), and myosin IIa showed grouping of histochemical fiber types. (C) Subsarcolemmal accumulation of abnormal mitochondria. Electron micrographs revealed subsarcolemmal accumulation of frequent abnormal mitochondria including variable sized rectangular or elongated rhomboidal paracrystalline inclusions. Magnification: × 200 (A), × 40 (B), and × 30,000 (C).