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Emery–Dreifuss muscular dystrophy: a test case for precision medicine

Authors Pillers D, Von Bergen N

Received 20 August 2015

Accepted for publication 12 December 2015

Published 24 February 2016 Volume 2016:9 Pages 27—32

DOI https://doi.org/10.2147/TACG.S75028

Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Prof. Dr. Martin H. Maurer


De-Ann M Pillers,1 Nicholas H Von Bergen2

1Division of Neonatology and Newborn Medicine, 2Division of Cardiology, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA

Abstract: Emery–Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or with, the nuclear envelope. Treatment approaches are largely based on clinical symptoms. The genetic diversity of EDMD predicts that a cure will ultimately depend upon the individual's defect at the gene level, making this an ideal candidate for a precision medicine approach.

Keywords: emerin, FHL1, lamins A/C, nuclear envelope

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