Article
Emery-Dreifuss muscular dystrophy.
European journal of human genetics : EJHG - 1 Mar 2002
Helbling-Leclerc Anne, Bonne Gisèle, Schwartz Ketty
Abstract excerpt
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.
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