Emery-Dreifuss muscular dystrophy.
Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
Helbling-Leclerc
Anne
A
Inserm U523, Institut de Myologie, GH Pitié-Salpétrière, Paris, France.
Bonne
Gisèle
G
Schwartz
Ketty
K
D005799:Genes, Dominant; D006801:Humans; D034882:Lamins; D008565:Membrane Proteins / Q000235:genetics; D008957:Models, Genetic; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D013946:Thymopoietins / Q000235:genetics; D014960:X Chromosome
D034882:Lamins; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin