Emery–Dreifuss muscular dystrophy: a test case for precision medicine
Open Access
- 1 February 2016
- journal article
- review article
- Published by Taylor & Francis Ltd in The Application of Clinical Genetics
- Vol. ume 9, 27-32
- https://doi.org/10.2147/tacg.s75028
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
This publication has 33 references indexed in Scilit:
- Nesprins: from the nuclear envelope and beyondExpert Reviews in Molecular Medicine, 2013
- Left ventricular hypertrophy caused by a novel nonsense mutation in FHL1European Journal of Medical Genetics, 2013
- TMEM43 mutations in emery‐dreifuss muscular dystrophy‐related myopathyAnnals of Neurology, 2010
- Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular DystrophyAmerican Journal of Human Genetics, 2009
- Multitissular involvement in a family with LMNA and EMD mutationsNeurology, 2007
- Respiratory involvement in inherited primary muscle conditionsJournal of Neurology, Neurosurgery & Psychiatry, 2006
- Emery-Dreifuss muscular dystrophyEuropean Journal of Human Genetics, 2002
- Fritz E. Dreifuss 1926-1997Epilepsia, 1998
- Emery-Dreifuss Muscular Dystrophy: Disease Spectrum and Differential DiagnosisNeuropediatrics, 1988
- Emery-Dreifuss muscular dystrophyThe Journal of Pediatrics, 1984