Ravenscroft, Gianina; Miyatake, Satoko; Lehtokari, Vilma-Lotta; Todd, Emily J.; Vomauen, Pauliina; Yau, Kyle S.; Hayashi, Yukiko K.; Miyake, Noriko; Tsurusaki, Yoshinori; Doi, Hiroshi; Saitsu, Hirotomo; Osaka, Hitoshi; Yamashita, Sumimasa; Ohya, Takashi; Sakamoto, Yuko; Koshimizu, Eriko; Imamura, Shintaro; Yamashita, Michiaki; Ogata, Kazuhiro; Shiina, Masaaki; Bryson-Richardson, Robert J.; Vaz, Raquel; Ceyhan, Ozge; Brownstein, Catherine A.; Swanson, Lindsay C.; Monnot, Sophie; Romero, Norma B.; Amthor, Helge; Kresoje, Nina; Sivadorai, Padma; Kiraly-Borri, Cathy; Haliloglu, Goknur; Talim, Beril; Orhan, Diclehan; Kale, Gulsev; Charles, Adrian K.; Fabian, Victoria A.; Davis, Mark R.; Lammens, Martin; Sewry, Caroline A.; Manzur, Adnan; Muntoni, Francesco; Clarke, Nigel F.; North, Kathryn N.; Bertini, Enrico; Nevo, Yoram; Willichowski, Eldthard; Silberg, Inger E.; Topaloglu, Haluk; Beggs, Alan H.; Allcock, Richard J. N.; Nishino, Ichizo; Wallgren-Pettersson, Carina; Matsumoto, Naomichi; laing, Nigel G. (Cell Press, 2013)
Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort ...