Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2

Author:

Calandra Patrizia,Cascino Isabella,Lemmers Richard J L F,Galluzzi Giuliana,Teveroni Emanuela,Monforte Mauro,Tasca Giorgio,Ricci Enzo,Moretti Fabiola,van der Maarel Silvère M,Deidda Giancarlo

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference28 articles.

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2. Facioscapulohumeral muscular dystrophy;Tawil;Muscle Nerve,2006

3. Population-based incidence and prevalence of facioscapulohumeral dystrophy;Deenen;Neurology,2014

4. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2;Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.;Nat Genet,2012

5. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions;Statland;Curr Opin Neurol,2011

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