Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies

A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy

Patrick Vicart, Anne Caron, Pascale Guicheney et al. · Nature Genetics · 1998 · 1.1K citations

Life Sciences, Genetics, Molecular Biology +15

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Lev G. Goldfarb, Kyeyoon Park, Larisa Červen̆áková et al. · Nature Genetics · 1998 · 506 citations

Medicine, Genetics, Molecular Genetics +16

Desmin Myopathy, a Skeletal Myopathy with Cardiomyopathy Caused by Mutations in the Desmin Gene

Marinos C. Dalakas, Kyeyoon Park, Cristina Semino‐Mora et al. · New England Journal of Medicine · 2000 · 454 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Desmin Mutation Responsible for Idiopathic Dilated Cardiomyopathy

Duanxiang Li, Terry Tapscoft, Óscar González‐Lorenzo et al. · Circulation · 1999 · 444 citations

Medicine, Cardiology, Genetics +15

A dysfunctional desmin mutation in a patient with severe generalized myopathy

Ana M Muñoz‐Mármol, Geraldine Strasser, Marcos Isamat et al. · Proceedings of the National Academy of Sciences · 1998 · 257 citations

Medicine, Genetics, Molecular Genetics +16