Article
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
American journal of human genetics - 3 Oct 2013
Sacconi Sabrina, Lemmers Richard J L F, Balog Judit, van der Vliet Patrick J, Lahaut Pauline, van Nieuwenhuizen Merlijn P, Straasheijm Kirsten R, Debipersad Rashmie D, Vos-Versteeg Marianne, Salviati Leonardo, Casarin Alberto, Pegoraro Elena, Tawil Rabi, Bakker Egbert, Tapscott Stephen J, Desnuelle Claude, van der Maarel Silvère M
Abstract excerpt
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1-10 units. The residual number of D4Z4 units inversely correlates with clinical severity, but significant clinical variability exists. Each unit contains a copy of the DUX4 retrogene. Repeat contractions are associated with changes in D4Z4 chromatin structure that increase the...
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