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Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.

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1
Department of Cell Biology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

Abstract

X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in EMD, which encodes a nuclear membrane protein named emerin. Emerin is expressed in most cells, but EDMD strikes specific tissues. This review summarizes growing evidence that emerin has roles in both tissue-specific gene regulation and the mechanical integrity of the nucleus and discusses how these roles might impact EDMD.

PMID:
16761279
PMCID:
PMC2559942
DOI:
10.1002/ar.a.20334
[Indexed for MEDLINE]
Free PMC Article
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