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

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...

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Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2013
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710748/
https://ncbi.nlm.nih.gov/pubmed/23746549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.05.004
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