关键词: FHL1 emerin lamins A/C nuclear envelope

来  源:   DOI:10.2147/TACG.S75028   PDF(Sci-hub)

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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