Title: | Identification of KLHL41 mutations implicates BTB-kelch-mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy |
Journal : | American journal of human genetics (The), 93, 6 |
Authors: | Gupta VA ; Ravenscroft G ; Shaheen R ; Todd EJ ; Swanson LC ; Shiina M ; Ogata K ; Hsu C ; Clarke NF ; Darras BT ; Farrar MA ; Hashem A ; Manton ND ; Muntoni F ; North KN ; Sandaradura SA ; Nishino I ; Hayashi YK ; Sewry CA ; Thompson EM ; Yau KS ; Browstein CA ; Yu TW ; Allcock RJN ; Davis MR ; Wallgren-Pettersson C ; Matsumoto N ; Alkuraya FS ; Laing NG ; Beggs AH |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p. 1108-1117 |
Languages: | English |
Keywords : | actin ; cohort studies ; exon ; genetic deletions ; genetic heterogeneity ; genetic mutations ; genotype-phenotype correlation ; motor skills ; myofibrils ; rod myopathy ; sarcomeres ; sequencing ; zebrafish |
Keywords: | gène KLHL41 |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2013.10.020 / Pubmed : 24268659 |
See also : |