Prevalence of desmin mutations in dilated cardiomyopathy.

  title={Prevalence of desmin mutations in dilated cardiomyopathy.},
  author={Matthew R G Taylor and Dobromir Slavov and Lisa Ku and Andrea di Lenarda and Gianfranco Sinagra and Elisa Carniel and Kurt Haubold and Mark M. Boucek and Debra A Ferguson and Sharon L. Graw and Xiao Zhong Zhu and Jean L Cavanaugh and Carmen C. Sucharov and Carlin S. Long and Michael R. Bristow and Philip W. Lavori and Luisa Mestroni},
  volume={115 10},
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 high-performance liquid chromatography was used to screen DES for mutations in 116 DCM… CONTINUE READING


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