Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy-Reference-Cited by-同舟云学术

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Published:2015-07-25 Issue:1 Volume:3 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Ruggieri Alessandra,Brancati Francesco,Zanotti Simona,Maggi Lorenzo,Pasanisi Maria Barbara,Saredi Simona,Terracciano Chiara,Antozzi Carlo,D′Apice Maria Rosaria,Sangiuolo Federica,Novelli Giuseppe,Marshall Christian R.,Scherer Stephen W.,Morandi Lucia,Federici Luca,Massa Roberto,Mora Marina,Minassian Berge A.

Funder

Italian Telethon

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40478-015-0224-0.pdf

Reference28 articles.

1. Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH (2012) Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol 71:407–416. doi:10.1002/ana.22683

2. Sarparanta J, Jonson PH, Golzio C, Sandell S, Luque H, Screen M, McDonald K, Stajich JM, Mahjneh I, Vihola A, Hatakeyama S, Tanaka S, Sasaki H. Raheem O, Penttilä S, Lehtinen S, Huovinen S, Palmio J, Tasca G, Ricci E, Hackman P, Hauser M, Katsanis N, Udd B (2012) Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet 44(450–455):S451–S452. doi:10.1038/ng.1103