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Correlation between D4Z4 methylation and clinical severity in FSHD2. Graph showing a significant correlation of −52.7% (P = 0.0013) between the calculated methylation at the shortest permissive allele and the age-corrected clinical severity score (ACSS). Included are 49/74 carriers of an SMCHD1 mutation for which we obtained an ACSS and in which we identified the presence of an FSHD-permissive allele. Non-penetrant individuals younger than 25 years were excluded from this correlation.
