Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Bonne, Gisèle; Mercuri, Eugenio; Muchir, Antoine; Urtizberea, Andoni; M. B�cane, H.; Récan, Dominique; Merlini, Luciano; Wehnert, Manfred; Boor, Rainer; Reuner, Ulrike; Vorgerd, Matthias; M. Wicklein, Eva; Eymard, B.; Duboc, Denis; Pénisson-Besnier, I.; Cuisset, J.; Ferrer, Xavier; Desguerre, I.; Lacombe, D.; Bushby, K.; Pollitt, C.; Toniolo, Daniela; Fardeau, Michel; Schwartz, K.; Muntoni, Francesco

doi:10.1002/1531-8249(200008)48:2<170::aid-ana6>3.0.co;2-j

Public

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Published in Annals of Neurology • Aug 1, 2000

Authors:

Gisèle Bonne

Eugenio Mercuri

Antoine Muchir

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of the elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and life-threatening cardiomyopathy with conduction blocks. We recently identified LMNA encoding two nuclear envelope proteins, lamins A...

Subject

Muscular dystrophy

Emerin

Lamin

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