Ontology highlight
ABSTRACT:
SUBMITTER: Yuen M
PROVIDER: S-EPMC4347224 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Yuen Michaela M Sandaradura Sarah A SA Dowling James J JJ Kostyukova Alla S AS Moroz Natalia N Quinlan Kate G KG Lehtokari Vilma-Lotta VL Ravenscroft Gianina G Todd Emily J EJ Ceyhan-Birsoy Ozge O Gokhin David S DS Maluenda Jérome J Lek Monkol M Nolent Flora F Pappas Christopher T CT Novak Stefanie M SM D'Amico Adele A Malfatti Edoardo E Thomas Brett P BP Gabriel Stacey B SB Gupta Namrata N Daly Mark J MJ Ilkovski Biljana B Houweling Peter J PJ Davidson Ann E AE Swanson Lindsay C LC Brownstein Catherine A CA Gupta Vandana A VA Medne Livija L Shannon Patrick P Martin Nicole N Bick David P DP Flisberg Anders A Holmberg Eva E Van den Bergh Peter P Lapunzina Pablo P Waddell Leigh B LB Sloboda Darcée D DD Bertini Enrico E Chitayat David D Telfer William R WR Laquerrière Annie A Gregorio Carol C CC Ottenheijm Coen A C CA Bönnemann Carsten G CG Pelin Katarina K Beggs Alan H AH Hayashi Yukiko K YK Romero Norma B NB Laing Nigel G NG Nishino Ichizo I Wallgren-Pettersson Carina C Melki Judith J Fowler Velia M VM MacArthur Daniel G DG North Kathryn N KN Clarke Nigel F NF
The Journal of clinical investigation 20140924 11
Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have been described in 9 genes to date, but the genetic basis remains unknown in many cases. Here, using an approach that combined whole-exome sequencing (WES) and Sanger sequencing, we identified homozygous or compound heterozygous variants in LMOD3 in 21 patients from 14 families with severe, usually lethal, NM. LM ...[more]