Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2-Reference-Cited by-同舟云学术

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

Published:2012-11-11 Issue:12 Volume:44 Page:1370-1374
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2454.pdf

Reference49 articles.

1. Statland, J.M. & Tawil, R. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr. Opin. Neurol. 24, 423–428 (2011).

2. Balog, J. et al. Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD. Epigenetics 7, 579–584 (2012).

3. Bodega, B. et al. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. BMC Biol. 7, 41 (2009).

4. Cabianca, D.S. et al. A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell 149, 819–831 (2012).

5. de Greef, J.C. et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum. Mutat. 30, 1449–1459 (2009).

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