Predictive value of D4Z4 methylation levels for phenotypic heterogeneity and disease progression in Facioscapulohumeral Muscular Dystrophy with borderline D4Z4 repeat units: a retrospective cohort study.

Abstract excerpt

Background: Facioscapulohumeral muscular dystrophy (FSHD) patients carrying borderline D4Z4 repeat units (DRUs) (8-10) represent a molecularly ambiguous group overlapping FSHD1 and FSHD2, characterized by pronounced phenotypic heterogeneity. This study aimed to determine the association between methylation levels and disease severity, progression in this undercharacterized cohort. Methods: This single-center and...

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