Title: | KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy |
Journal : | The Journal of clinical investigation, 124, 8 |
Authors: | Garg A ; O'Rourke J ; Long C ; Doering J ; Ravenscroft G ; Bezprozvannaya S ; Nelson BR ; Beetz N ; Li L ; Chen S ; Laing NG ; Grange RW ; Bassel Duby R ; Olson EN |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 3529 |
Languages: | English |
Keywords : | actin ; cross-sectional study ; nebulin ; rod myopathy ; sarcomeric proteins |
Pubmed / DOI : | DOI : 10.1172/JCI74994 / Pubmed : 24960163 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24960163 |