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 Koshmizu, Shintaro Imamura, Michiaki Yamashita, Kazuhiro Ogata, Masaaki ShiinaRobert James Bryson-Richardson, Raquel Rodrigues Vaz, Ozge Ceyhan, Catherine Brownstein, Lindsay C Swanson, Sophie Monnot, Norma B Romero, Helge Amthor, Nina Kresoje, Padma Sivadorai, Cathy Kiraly-Borri, Gokur 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 Lang

Research output: Contribution to journalArticleResearchpeer-review

111 Citations (Scopus)
Original languageEnglish
Pages (from-to)6 - 18
Number of pages13
JournalAmerican Journal of Human Genetics
Volume93
Issue number1
DOIs
Publication statusPublished - 2013

Cite this