Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy-Reference-Cited by-同舟云学术

Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

Published:2015-03-29 Issue:1 Volume:7 Page:
ISSN:1868-7075
Container-title:Clinical Epigenetics
language:en
Short-container-title:Clin Epigenet

Author:

Jones Takako I,King Oliver D,Himeda Charis L,Homma Sachiko,Chen Jennifer C J,Beermann Mary Lou,Yan Chi,Emerson Charles P,Miller Jeffrey B,Wagner Kathryn R,Jones Peter L

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Genetics,Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13148-015-0072-6.pdf

Reference98 articles.

1. Padberg GW. Facioscapulohumeral Disease [thesis]. Leiden, the Netherlands: Leiden University; 1982.

2. Tawil R. Facioscapulohumeral muscular dystrophy. Neurotherapeutics. 2008;5:601–6.

3. Padberg GW, van Engelen BG. Facioscapulohumeral muscular dystrophy. Curr Opin Neurol. 2009;22:539–42.

4. de Greef JC, Lemmers RJ, van Engelen BG, Sacconi S, Venance SL, Frants RR, et al. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD. Hum Mutat. 2009;30:1449–59.

5. Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012;44:1370–4.

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