期刊
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
卷 647, 期 1-2, 页码 94-102出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.mrfmmm.2008.07.011
关键词
FSHD; Muscular dystrophy; D4Z4 repeat; Epigenetics; Chromatin; Nuclear organization
资金
- Netherlands Organization for Scientific Research
- Muscular Dystrophy Association USA
- FSH Society
- National Institutes of Health and the Fields Center for FSHD & Neuromuscular Research
Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic macrosatellite repeat D4Z4 on chromosome 4qter. Currently, the exact mechanism causing the FSHD phenotype is still not elucidated. In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis. (c) 2008 Elsevier B.V. All rights reserved.
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