G.P.142: A new EMD gene missense mutation in exon 1 leads to absence of emerin and is responsible for X-linked dilated cardiomyopathy with conduction defects and arrhythmias and almost elusive skeletal muscle features

• Published in: Neuromuscular disorders : NMD Vol. 24; no. 9-10; pp. 843 - 844
• Main Authors: Ben Yaou, R., Gerard, M., Chami, K., Sehier, A., Belin, A., Labombarda, F., Richard, P., Bonne, G., Leturcq, F., Chapon, F.
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.10.2014

Mutations in the EMD gene, encoding emerin, lead to X-linked Emery-Dreifuss muscular dystrophy (EDMD). Although always associated with EDMD, an almost exclusive cardiac involvement was found in exceptional patients carrying EMD gene mutations. We here report 2 brothers belonging to a family where 9...