Emery-Dreifuss muscular dystrophy.
Emery-Dreifuss muscular dystrophy (EDMD) is inherited in an X-linked or autosomal manner. X-linked EDMD is caused by mutations in EMD, which encodes an integral protein of the nuclear envelope inner membrane called emerin. Autosomally inherited EDMD is caused by mutations in LMNA, which encodes A-type nuclear lamins, intermediate filament proteins associated with inner nuclear membrane. Although the causative mutations have been described and mouse models have been created, the pathogenic processes by which mutations in genes encoding nuclear envelope proteins cause striated muscle abnormalities in EDMD remain obscure. Working hypotheses include effects on nuclear structural integrity, increased cellular susceptibility to mechanical stress damage, alterations in gene expression in response to nuclear envelope changes, and effects on cell proliferation and differentiation.
Muchir
Antoine
A
Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Worman
Howard J
HJ
D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D008954:Models, Biological; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000266:history / Q000503:physiopathology*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics
D034904:Lamin Type A; D008565:Membrane Proteins; D009687:Nuclear Proteins; C092710:emerin