Emery-Dreifuss muscular dystrophy - PubMed (original) (raw)

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Emery-Dreifuss muscular dystrophy

Anne Helbling-Leclerc et al. Eur J Hum Genet. 2002 Mar.

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.

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