Title: | Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy |
Journal : | Nature genetics, 44, 4 |
Authors: | Sarparanta J ; Jonson PH ; Golzio C ; Sandell S ; Luque H ; Screen M ; McDonald K ; Stajich JM ; Mahjneh I ; Vihola A ; Raheem O ; Penttila S ; Lehtinen S ; Huovinen S ; Palmio J ; Tasca G ; Ricci E ; Hackman P ; Hauser M ; Katsanis N ; Udd B |
Material Type: | Article |
Publication Date: | 2012 |
Size: | p. 450-455 |
Languages: | English |
Keywords : | autosomal dominant inheritance ; BAG3 protein ; chaperone proteins ; chromosome 7 ; DNAJB6 gene ; DNAJB6-related limb-girdle muscular dystrophy D1 ; electron microscopy ; family ; Finland ; genetic mutations ; Italy ; muscle biopsies ; skeletal muscle ; United States |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=22366786 |
Pubmed / DOI : | DOI : 10.1038/ng.1103 |