Figure 2.

Light and electron microscopic results of the muscle biopsy. (A–C) Light microscopic images of the proband. (A) Modified SDH images showing two ragged blue fibers. (B) Gomori trichrome staining shows small angular, partially atrophic, and fewer significantly atrophic fibers consistent with a neurogenic lesion. (C) Fibers stained unevenly with NADH; in some fibers, subsarcolemmal increased Enzyme activity was present. (D–F) Electron Microscopic images of the proband. (D) Demonstrates concentric degenerated mitochondria (yellow star) in subsarcolemmal localization. (E) Shows intermyofibrillar, and (F) Shows subsarcolemmal increased number of enlarged, pleomorphic mitochondria (red m), glycogen accumulation (red g), and few lipid vacuoles (red l).