{Reference Type}: Journal Article
{Title}: Emery-Dreifuss muscular dystrophy: a test case for precision medicine.
{Author}: Pillers DA;Von Bergen NH;
{Journal}: Appl Clin Genet
{Volume}: 9
{Issue}: 0
{Year}: 2016
暂无{DOI}: 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.