ALG1-CDG: clinical and molecular characterization of 39 unreported patients

- Ng, Bobby G., Shiryaev, Sergey A., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Rymen, Daisy, Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, Eklund, Erik A., James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Raymond, Kimiyo, Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarillis, Vilain, Eric, Kircher, Martin, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H., University of Washington Center for Mendelian Genomics, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J.

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

- Clarke, Nigel F., Waddell, Leigh B., Guglieri, Michela, King, Mary D., Farrell, Michael A., Marty, Isabelle, Lunardi, Joel, Monnier, Nicole, North, Kathryn N., Cooper, Sandra T., Perry, Margaret, Smith, Robert L. L., Kornberg, Andrew J., Muntoni, Francesco, Lillis, Suzanne, Straub, Volker, Bushby, Kate