Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy type 1D (LGMD1D) was linked to 7q36 over a decade ago(1), but its genetic cause has remained elusive. We have studied nine LGMD families from Finland, the U.S., and Italy, and identified four dominant missense mutations leading to p.Phe93Leu or p.Phe89Ile changes in th...

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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3315599/
https://ncbi.nlm.nih.gov/pubmed/22366786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.1103
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