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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: 2012
Teme:
Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items