Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

✍ Scribed by Lemmers, Richard J L F; Tawil, Rabi; Petek, Lisa M; Balog, Judit; Block, Gregory J; Santen, Gijs W E; Amell, Amanda M; van der Vliet, Patrick J; Almomani, Rowida; Straasheijm, Kirsten R; Krom, Yvonne D; Klooster, Rinse; Sun, Yu; den Dunnen, Johan T; Helmer, Quinta; Donlin-Smith, Colleen M; Padberg, George W; van Engelen, Baziel G M; de Greef, Jessica C; Aartsma-Rus, Annemieke M; Frants, Rune R; de Visser, Marianne; Desnuelle, Claude; Sacconi, Sabrina; Filippova, Galina N; Bakker, Bert; Bamshad, Michael J; Tapscott, Stephen J; Miller, Daniel G; van der Maarel, Silvère M

• Book ID: 126155205
• Publisher: Nature Publishing Group
• Year: 2012
• Tongue: English
• Weight: 466 KB
• Volume: 44
• Category: Article
• ISSN: 1061-4036
• DOI: 10.1038/ng.2454