Research paperDNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations
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Genetic and epigenetic contributors to FSHD
2015, Current Opinion in Genetics and DevelopmentCitation Excerpt :Moreover, approximately 1–2% of healthy control individuals carries a D4Z4 repeat array of 8–10 units on a 4qA allele, putting them at risk of developing FSHD [17,18]. Early studies already suggested a rough and inverse relationship between D4Z4 repeat size and disease severity in FSHD1, with individuals carrying 1–3 units typically representing the most severe end of the disease spectrum [48–51]. Recent studies have, however, started to uncover some aspects of the molecular basis of this marked clinical variability in disease onset and progression.
The FSHD2 gene SMCHD1 Is a modifier of disease severity in families affected by FSHD1
2013, American Journal of Human GeneticsCitation Excerpt :Previous studies were only partially successful in explaining the variation in clinical severity in individuals with FSHD1. In addition to the inverse correlation with the residual repeat size,9,11,12,37 CpG methylation and histone modification studies of D4Z4 have likewise uncovered only rough correlations between residual methylation levels and clinical severity, with the most severely affected individuals with the smallest repeat sizes showing the largest reduction in repressive chromatin modifications.38,39 To identify modifiers of disease severity, of particular interest are those families with FSHD1 carrying upper-sized D4Z4 repeat arrays of 8–10 units, as shown by the fact that carriers of these alleles are more likely to have a partial or less severe form of FSHD or to be asymptomatic.40–42
Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy
2006, Neuromuscular DisordersFSHD-like patients without 4q35 deletion
2004, Journal of the Neurological Sciences