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. 2020 Jun 18;88(2):332–347. doi: 10.1002/ana.25772

FIGURE 2.

FIGURE 2

Histological, ultrastructural, and immunostaining characteristics of muscle in GGPS1‐related muscular dystrophy. (A–C) Muscle from a deltoid biopsy performed in Patient P1 at 21 years demonstrates nuclear internalization and a rimmed vacuole (arrow) on Gömöri Trichrome staining (A). Nicotinamide adenine dinucleotide (NADH; B) and cytochrome oxidase (COX; C) stains reveal focally irregular staining, including core‐like regions (C). (D–F) Muscle from a deltoid biopsy performed in Patient P4 at 39 years demonstrates a ragged red fiber (asterisk) and myophagocytosis (arrow) on Gömöri trichrome staining (D). NADH (E) and COX (F) staining demonstrate mildly irregular staining and a COX‐negative fiber (asterisk; F). (G) Electron microscopy (EM) performed on Patient P1's deltoid muscle biopsy at 21 years reveals autophagic material including myeloid bodies. (H, I) EM of Patient P2's deltoid biopsy at 19 years shows findings suggestive of mitophagy (H) and accumulation of subsarcolemmal mitochondria (I). (J–L) Patient P8's quadriceps biopsy at 14 years reveals ultrastructural evidence of elongated mitochondria (J) and an accumulation of autophagic debris (K). Further evidence of disordered autophagy is seen by positive staining for the autophagy marker LC3B (L).