Title: | Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy |
Journal : | Neuromuscular disorders : NMD, 24, 5 |
Authors: | Couthouis J ; Raphael AR ; Siskind C ; Findlay AR ; Buenrostro JD ; Greenleaf WJ ; Vogel H ; Day JW ; Flanigan KM ; Gitler AD |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 431 |
Languages: | English |
Keywords : | DNAJB6 gene ; DNAJB6-related limb-girdle muscular dystrophy D1 ; genetic mutations ; muscle histopathology ; sequencing |
Keywords: | DNAJB6;Exome sequencing;Limb-girdle muscular dystrophy; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2014.01.014 / Pubmed : 24594375 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24594375 |