Published January 2, 2015 - More info
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
Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, Alla S. Kostyukova, Natalia Moroz, Kate G. Quinlan, Vilma-Lotta Lehtokari, Gianina Ravenscroft, Emily J. Todd, Ozge Ceyhan-Birsoy, David S. Gokhin, Jérome Maluenda, Monkol Lek, Flora Nolent, Christopher T. Pappas, Stefanie M. Novak, Adele D’Amico, Edoardo Malfatti, Brett P. Thomas, Stacey B. Gabriel, Namrata Gupta, Mark J. Daly, Biljana Ilkovski, Peter J. Houweling, Ann E. Davidson, Lindsay C. Swanson, Catherine A. Brownstein, Vandana A. Gupta, Livija Medne, Patrick Shannon, Nicole Martin, David P. Bick, Anders Flisberg, Eva Holmberg, Peter Van den Bergh, Pablo Lapunzina, Leigh B. Waddell, Darcée D. Sloboda, Enrico Bertini, David Chitayat, William R. Telfer, Annie Laquerrière, Carol C. Gregorio, Coen A.C. Ottenheijm, Carsten G. Bönnemann, Katarina Pelin, Alan H. Beggs, Yukiko K. Hayashi, Norma B. Romero, Nigel G. Laing, Ichizo Nishino, Carina Wallgren-Pettersson, Judith Melki, Velia M. Fowler, Daniel G. MacArthur, Kathryn N. North, Nigel F. Clarke
Original citation: J Clin Invest. 2014;124(11):4693–4708. doi:10.1172/JCI75199.
Citation for this corrigendum: J Clin Invest. 2015;125(1):456–457. doi:10.1172/JCI80057.
In the original version of the article, the mutation c.601_602delGA in LMOD3 was incorrectly described; the correct predicted protein change is p.D201Qfs*9. In addition, the LMOD3 mutation p.S47Qfs*13 was incorrectly indicated; the correct mutation is S47Qfs*13. These errors affected portions of Table 1, Table 2, Figure 1, and Supplemental Table 2. The corrected versions of Table 1, Table 2, and Figure 1 appear below, and Supplemental Table 2 has been updated online.
LMOD3 variants and protein expression
Clinical features of LMOD3-NM
The authors regret the errors.