Résumé :
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In 1966, A. Emery and F. Dreifuss described a large family from Virginia, where affected males showed an unusual type of X-linked condition characterised by muscular dystrophy with early joint contractures and cardiac disease, thus starting the first chapter of a long story on a disease called thereafter Emery-Dreifuss muscular dystrophy (EDMD). Since 1994, when the first mutations in EMD gene encoding a nuclear envelope integral protein known as emerin were identified, a large amount of patients and mutations were described. In addition to EDMD, Emerin gene mutations turned out to lead also, but rarely, to isolated cardiac disease and limb girdle muscular dystrophy. These various phenotypic expressions of emerin gene mutations are known as emerinopathies.We here reviewed clinical, genetic and protein data of EMD gene mutation carriers (156 families, 364 mutation carriers) including non published (45 families, 106 mutation carriers) as well as those reported in the literature since 1994 (111 families, 258 mutation carriers). By using the By using the Universal-Mutation-Database database-EMD database tools, we looked for molecular epidemiology and phenotype/genotype correlations.We found that EMD gene mutations leading to EDMD are usually frame shifting (78% of all EDMD cases) with usually absence of emerin protein. They were spread along the entire gene with a maximum hit within exons 1 and 2, residues 1 and 34 being the most frequently affected (16% of all EDMD cases). Phenotypicaly, EDMD patients were usually of similar history with variability in the age of onset of cardiac disease. So far, there is only one EMD mutation leading to isolated cardiac disease. Cardiac disease complications including high degree conduction defects, sustained arrhythmias, heart failure and ischemic stroke are of high prognosis value.
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