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. Author manuscript; available in PMC: 2018 Nov 1.
Published in final edited form as: Hum Mutat. 2017 Aug 17;38(11):1477–1484. doi: 10.1002/humu.23297

Figure 1.

Figure 1

Figure 1AB. Electron microscopy from spinal roots at the lumbosacral level from first affected infant in Family 1 (A) shows lengthening of the node of Ranvier (black arrows) as compared to control (B).

Figure 1C–E. Muscle biopsy from second affected infant in Family 1. C. Muscle fibers have varied sizes. Smaller fibers are intermediate sized and polygonal. (Hematoxylin & Eosin stain); D. More severely involved region of muscle. Fiber size is more varied. Some muscle fibers have central nuclei. (Gomori trichrome stain); E. Excessive numbers of immature, Type 2C, muscle fibers. The 2C fibers are small and explain some of the variation of muscle fiber size. There is type 2 muscle fiber predominance. (ATPase pH4.3 stain)