Fig. 1.

The mean percentage of nuclei containing aggregates does not vary with PABPN1 genotype but varies with age. a PABPN1 staining (green) performed after a KCl 1 M pre-treatment on 5 μm-thick cryosections. Nuclei are counterstained with dapi (blue) and muscle fibers delineated with an anti-dystrophin (red) staining. Scale bar = 50 µm. Aggregates are indicated with an arrow. b Box-plot and individual values of the mean percentage of myonuclei containing aggregates for each genotype. Within one genotype, the age of the patients is variable. Each dot represents a patient. Mean and SEM are indicated for each genotype. Muscle biopsy samples used: 10–11: SCM, 10–12: SCM, 10–13: SCM/DTM, 10–14: SCM-DTM, 10–15: SCM/DTM/TAM/VLM, 10–16: VLM/TAM, 10–17: VLM, 11–11: SCM/DTM, 13–13: SCM. No statistical difference is observed using a one-way Anova test on all the genotypes except (GCN)10–11, (GCN)10–17, (GCN)11–11 and (GCN)13–13 containing only one or two patient. c Correlation between age at biopsy and percentage of nuclei with aggregates for the 41 patients genotyped (GCN)10–13. Each dot represents a patient. Error bar represents experimental error on the measure. Linear regression statistic test: slope: 0.1401 ± 0.03587; R2 = 0.1080; p < 0.0002