case_images: PMC11327043_01
case_images: Histopathologic manifestations of the patient muscle. (A) Hematoxylin-eosin (HE) staining revealing vacuole formation beneath the myoplasmic membrane. (B) Glycogen deposition in muscle fibers, identified as PAS-positive in glycogen staining. (C) NADH staining indicating an absence of evident positive areas. (D) No abnormalities observed in COX + SDH double staining. PAS, Schiff periodic acid shiff; NADH, Nicotinamide adenine dinucleotide; COX, cytochrome c oxidase; SDH, Succinate dehydrogenase.
case_images: fgene-15-1422908-g001.jpg
case_images: PMC11327043_01_fgene-15-1422908-g001.jpg
case_images: F1
case_images: Hematoxylin and eosin (HE) staining revealed marked morphological abnormalities, including muscle fibers of variable size, predominantly small polygons and rounded shapes, with vacuole formation observed in the subplasma membrane of the muscle (Figure 1A). Acid-Schiff (PAS) staining uncovered pools of glycogen-like material of varying sizes and locations within a subset of muscle fibers. Additionally, some of these fibers, along with others lacking evident glycogen stores, exhibited signs of atrophy (Figure 1B). Nicotinamide adenine dinucleotide (NADH) staining showed no obvious abnormalities (Figure 1C). Succinate dehydrogenase (SDH) staining displayed a proliferation of mitochondria beneath the sarcolemma (Figure 1D).
case_images: Whole genome sequencing (WGS) and whole exome sequencing (WES) were performed on the proband and her parents. (A, D) The results indicated that the proband had compound heterozygous mutations in the PFKM gene: (C)1376 (exon15) G>A variant in exon 15 and (C)626 (exon7) G>A variant in exon 7. (B, C and E, F) Sanger traces for PCR of her parents. The (C)1376 (exon15) G>A on exon15 and (C)626 (exon7) G>A on exon 7 come from the mother and father, respectively. The arrows in the figure indicate exonic regions.
case_images: fgene-15-1422908-g002.jpg
case_images: PMC11327043_01_fgene-15-1422908-g002.jpg
case_images: F2
case_images: G>A variant in exon 7 resulted in Gly to Asp (p. Gly312Asp) (Figures 2A,D). The 1376 (exon15) G>A on exon15 and 626 (exon7) G>A on exon 7 come from the mother and father, respectively. (Figures 2B-C,E-F).