Article
Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on.
Cellular and molecular life sciences : CMLS - 1 Dec 2006
Ellis J A
Abstract excerpt
Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular degenerative condition with an associated dilated cardiomyopathy and cardiac conduction defect. It can be inherited in either an X-linked or autosomal manner by mutations in the nuclear proteins emerin and lamin A/C, respectively. Traditionally muscular dystrophies were associated with defects in sarcolemma-associated proteins and, therefore, a nuclear...
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