Article
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
American journal of human genetics - 11 Jul 2013
Ravenscroft Gianina, Miyatake Satoko, Lehtokari Vilma-Lotta, Todd Emily J, Vornanen 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 Ekkhard, Silberg Inger E, Topaloglu Haluk, Beggs Alan H, Allcock Richard J N, Nishino Ichizo, Wallgren-Pettersson Carina, Matsumoto Naomichi, Laing Nigel G
Abstract excerpt
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 of 143 severe-NEM-affected families lacking genetic diagnosis. We performed whole-exome sequencing of six families and targeted gene sequencing of additional families. We identified 19...
Topics
- Amino Acid Substitution
- Animals
- Asian People
- Cohort Studies