Article
Prevalence of desmin mutations in dilated cardiomyopathy.
Circulation - 13 Mar 2007
Taylor Matthew R G, Slavov Dobromir, Ku Lisa, Di Lenarda Andrea, Sinagra Gianfranco, Carniel Elisa, Haubold Kurt, Boucek Mark M, Ferguson Debra, Graw Sharon L, Zhu Xiao, Cavanaugh Jean, Sucharov Carmen C, Long Carlin S, Bristow Michael R, Lavori Philip, Mestroni Luisa
Abstract excerpt
BACKGROUND: Desmin-related myofibrillar myopathy (DRM) is a cardiac and skeletal muscle disease caused by mutations in the desmin (DES) gene. Mutations in the central 2B domain of DES cause skeletal muscle disease that typically precedes cardiac involvement. However, the prevalence of DES mutations in dilated cardiomyopathy (DCM) without skeletal muscle disease is not known. METHODS AND RESULTS: Denaturing...
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