Missense mutations in desmin associated with familial cardiac and skeletal myopathy

  title={Missense mutations in desmin associated with familial cardiac and skeletal myopathy},
  author={Lev G. Goldfarb and Kye-yoon Park and Larisa Cerven{\'a}kov{\'a} and Svetlana Gorokhova and Hee-Suk Lee and Olavo Vasconcelos and James W. Nagle and Christina Semino-Mora and Kumaraswamy Sivakumar and Marinos C. Dalakas},
  journal={Nature Genetics},
Desmin-related myopathy (OMIM 601419) is a familial disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias and restrictive heart failure, and by intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. The underlying molecular mechanisms are unknown. Involvement of the desmin gene (DES) has been excluded in three families diagnosed with desmin-related myopathy. We report two new families with desmin… CONTINUE READING
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cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy

  • Vicart, P. et al. Human desmin gene
  • Hum. Genet. 98, 422–429
  • 1996

a clinicopathologic and electrophysiologic study of a large kinship

  • S. H. Horowitz, Schmalbruch, H. Autosomal dominant distal myopathy with desmin storage
  • Muscle Nerve 17, 151–160
  • 1994

a model for many degenerative diseases

  • Yu, K. R. et al. Truncated desmin in PtK2 cells induces d coprecipitation, involution of intermediate filament networks, nuclear fragmentation
  • Proc. Natl Acad. Sci. USA 91, 2497–2501
  • 1994

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