Article
Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2.
Human molecular genetics - 1 Feb 2015
Lemmers Richard J L F, Goeman Jelle J, van der Vliet Patrick J, van Nieuwenhuizen Merlijn P, Balog Judit, Vos-Versteeg Marianne, Camano Pilar, Ramos Arroyo Maria Antonia, Jerico Ivonne, Rogers Mark T, Miller Daniel G, Upadhyaya Meena, Verschuuren Jan J G M, Lopez de Munain Arregui Adolfo, van Engelen Baziel G M, Padberg George W, Sacconi Sabrina, Tawil Rabi, Tapscott Stephen J, Bakker Bert, van der Maarel Silvère M
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD: MIM#158900) is a common myopathy with marked but largely unexplained clinical inter- and intra-familial variability. It is caused by contractions of the D4Z4 repeat array on chromosome 4 to 1-10 units (FSHD1), or by mutations in the D4Z4-binding chromatin modifier SMCHD1 (FSHD2). Both situations lead to a partial opening of the D4Z4 chromatin structure and...
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