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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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

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 alphaB-crystallin gene (CRYAB), a candidate gene encoding a 20-kD protein that is abundant in lens and is also present in a number of non-ocular tissues, including cardiac and skeletal muscle. AlphaB-crystallin is a member of the small heat shock protein (shsp) family and possesses molecular chaperone activity. We identified an R120G missense mutation in CRYAB that co-segregates with the disease phenotype in this family. Muscle cell lines transfected with the mutant CRYAB cDNA showed intracellular aggregates that contain both desmin and alphaB-crystallin as observed in muscle fibers from DRM patients. These results are the first to identify a defect in a molecular chaperone as a cause for an inherited human muscle disorder.[1]


  1. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Vicart, P., Caron, A., Guicheney, P., Li, Z., Prévost, M.C., Faure, A., Chateau, D., Chapon, F., Tomé, F., Dupret, J.M., Paulin, D., Fardeau, M. Nat. Genet. (1998) [Pubmed]
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