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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2012
Pynciau:
Article
Mynediad Ar-lein: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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