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. 2018 Jul 31;91(5):e444–e454. doi: 10.1212/WNL.0000000000005915

Figure 4. Genotype–phenotype correlations.

Figure 4

(A) Correlation between the size of the facioscapulohumeral muscular dystrophy allele in units and the age-corrected clinical severity score (CSS). R = −0.48 (p < 0.01) (Spearman rho). (B) D4Z4 methylation (delta1-methylation value) and clinical severity (dichotomized age-corrected CSS) for each repeat length. For each repeat array size, we binned the mutation carriers based on their age-corrected CSS (<50: mild disease severity; ≥50: moderate–severe disease severity). For carriers of a 9-unit repeat, more severe disease tended to be associated with a lower delta1-methylation value (p = 0.06). *Mutation carriers with DNMT3B variant.