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

@article{Vicart1998AMM,
  title={A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy},
  author={Patrick Vicart and Anne Caron and Pascale Guicheney and Zhenlin Li and M H Prevost and Armelle Faure and Danielle Ch{\^a}teau and Françoise Chapon and Fernando M. S. Tom{\'e} and J Dupret and Denise Paulin and Michel Fardeau},
  journal={Nature Genetics},
  year={1998},
  volume={20},
  pages={92-95}
}
Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a large French pedigree to a 26-cM interval in chromosome 11q21–23. This region contains the αB-crystallin gene (CRYAB), a candidate gene encoding a 20-kD protein that is abundant… CONTINUE READING
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Alpha-Bcrystallin and Hsp25 in neonatal cardiac cells. Differences in cellular localization under stress conditions

  • F. Vandeklundert, M. Gijsen, P. Vandenijssel, L. Snoeckx, W. Dejong
  • Eur. J. Cell Biol
  • 1998

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