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. Author manuscript; available in PMC: 2018 Jul 16.
Published in final edited form as: J Neurol Neurosurg Psychiatry. 2016 May 4;87(8):802–809. doi: 10.1136/jnnp-2016-313163

Figure 3.

Figure 3

Muscle biopsy. Muscle biopsy from quadriceps femoris in case 3 at age 25 years, showing variation in fibre size with occasional atrophic fibres and increase in internal nucleation with H&E staining (A). There is a focal increase in endomysial collagen (B), occasional necrotic fibres (C) and regenerating fibres (D). NADH staining shows mild disturbance of the internal architecture in a number of fibres (E). Numerous fibres express neonatal myosin (F). There is a pattern of slow fibre predominance with these being of generally small size (G). Immunohistochemical staining shows reduced labelling for α-dystroglycan (H) compared to β-dystroglycan (I). Ultrastructural examination shows lack of accumulation of granular material, rimmed vacuoles or tubular aggregates (J). Range of fibre size A-I=30–120 μm; bar in J=5 μm. NADH, nicotinamide adenine dinucleotide hydrogen.