title: Emery-Dreifuss muscular dystrophy: a test case for precision medicine.
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.
authors.affiliation: Division of Neonatology and Newborn Medicine, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA.
authors.forename: De-Ann M
authors.initials: DA
authors.lastname: Pillers
authors.affiliation: Division of Cardiology, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA.
authors.forename: Nicholas H
authors.initials: NH
authors.lastname: Von Bergen
keywords: FHL1; emerin; lamins A/C; nuclear envelope