Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma Lotta Lehtokari, Emily J. Todd, Pauliina Vornanen, Kyle S. Yau, Yukiko K. Hayashi, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Hitoshi Osaka, Sumimasa Yamashita, Takashi Ohya, Yuko Sakamoto, Eriko Koshimizu, Shintaro Imamura, Michiaki Yamashita, Kazuhiro Ogata, Masaaki ShiinaRobert J. Bryson-Richardson, Raquel Vaz, Ozge Ceyhan, Catherine A. Brownstein, Lindsay C. Swanson, Sophie Monnot, Norma B. Romero, Helge Amthor, Nina Kresoje, Padma Sivadorai, Cathy Kiraly-Borri, Goknur Haliloglu, Beril Talim, Diclehan Orhan, Gulsev Kale, Adrian K. Charles, Victoria A. Fabian, Mark R. Davis, Martin Lammens, Caroline A. Sewry, Adnan Manzur, Francesco Muntoni, Nigel F. Clarke, Kathryn N. North, Enrico Bertini, Yoram Nevo, Ekkhard Willichowski, Inger E. Silberg, Haluk Topaloglu, Alan H. Beggs, Richard J N Allcock, Ichizo Nishino, Carina Wallgren-Pettersson, Naomichi Matsumoto, Nigel G. Laing

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Medicine & Life Sciences