| Literature DB >> 11973618 |
Anne Helbling-Leclerc1, Gisèle Bonne, Ketty Schwartz.
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.Entities:
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Year: 2002 PMID： 11973618 DOI： 10.1038/sj.ejhg.5200744
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246