Emery-Dreifuss Muscular Dystrophy: a Test Case for Precision Medicine

Overview

Journal Appl Clin Genet

Publisher Dove Medical Press

Specialty Genetics

Date 2016 Mar 12

PMID 26966385

Citations 13

Authors

De-Ann M Pillers

Nicholas H Von Bergen

Affiliations

Soon will be listed here.

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.

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