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Eur J Hum Genet. 2002 Mar;10(3):157-61.

Emery-Dreifuss muscular dystrophy.

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  • 1Inserm U523, Institut de Myologie, GH Pitié-Salpétrière, Paris, France.

Abstract

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.

PMID:
11973618
[PubMed - indexed for MEDLINE]
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