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Digenic Inheritance of an SMCHD1 Mutation and an FSHD-permissive D4Z4 Allele Causes Facioscapulohumeral Muscular Dystrophy Type 2

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

Nature Genetics（2012）

Cited 529|Views73
Key words
Disease genetics,Epigenetics,Musculoskeletal abnormalities,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics
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