Article
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Nature genetics - 26 Feb 2012
Sarparanta Jaakko, Jonson Per Harald, Golzio Christelle, Sandell Satu, Luque Helena, Screen Mark, McDonald Kristin, Stajich Jeffrey M, Mahjneh Ibrahim, Vihola Anna, Raheem Olayinka, Penttilä Sini, Lehtinen Sara, Huovinen Sanna, Palmio Johanna, Tasca Giorgio, Ricci Enzo, Hackman Peter, Hauser Michael, Katsanis Nicholas, Udd Bjarne
Abstract excerpt
Limb-girdle muscular dystrophy type 1D (LGMD1D) was linked to chromosome 7q36 over a decade ago, but its genetic cause has remained elusive. Here we studied nine LGMD-affected families from Finland, the United States and Italy and identified four dominant missense mutations leading to p.Phe93Leu or p.Phe89Ile changes in the ubiquitously expressed co-chaperone DNAJB6. Functional testing in vivo showed that the...
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