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 Shiina; Robert 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

doi:10.1016/j.ajhg.2013.05.004

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 Shiina

Robert 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

School of Biological Sciences

Research output: Contribution to journal › Article › Research › peer-review

192 Citations (Scopus)

Original language	English
Pages (from-to)	6 - 18
Number of pages	13
Journal	American Journal of Human Genetics
Volume	93
Issue number	1
DOIs	https://doi.org/10.1016/j.ajhg.2013.05.004
Publication status	Published - 2013

Access to Document

10.1016/j.ajhg.2013.05.004

Cite this

Ravenscroft, G., Miyatake, S., Lehtokari, V.-L., Todd, E. J., Vornanen, P., Yau, K. S., Hayashi, Y. K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshmizu, E., Imamura, S., Yamashita, M., Ogata, K., ... Lang, N. G. (2013). Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. American Journal of Human Genetics, 93(1), 6 - 18. https://doi.org/10.1016/j.ajhg.2013.05.004

@article{02995bb901ec4153bd7047eb35b5b07e,

title = "Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy",

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

year = "2013",

doi = "10.1016/j.ajhg.2013.05.004",

language = "English",

volume = "93",

pages = "6 -- 18",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "1",

}

Ravenscroft, G, Miyatake, S, Lehtokari, V-L, Todd, EJ, Vornanen, P, Yau, KS, Hayashi, YK, Miyake, N, Tsurusaki, Y, Doi, H, Saitsu, H, Osaka, H, Yamashita, S, Ohya, T, Sakamoto, Y, Koshmizu, E, Imamura, S, Yamashita, M, Ogata, K, Shiina, M, Bryson-Richardson, RJ, Rodrigues Vaz, R, Ceyhan, O, Brownstein, C, Swanson, LC, Monnot, S, Romero, NB, Amthor, H, Kresoje, N, Sivadorai, P, Kiraly-Borri, C, Haliloglu, G, Talim, B, Orhan, D, Kale, G, Charles, AK, Fabian, VA, Davis, MR, Lammens, M, Sewry, CA, Manzur, A, Muntoni, F, Clarke, NF, North, KN, Bertini, E, Nevo, Y, Willichowski, E, Silberg, IE, Topaloglu, H, Beggs, AH, Allcock, RJN, Nishino, I, Wallgren-Pettersson, C, Matsumoto, N & Lang, NG 2013, 'Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy', American Journal of Human Genetics, vol. 93, no. 1, pp. 6 - 18. https://doi.org/10.1016/j.ajhg.2013.05.004

TY - JOUR

T1 - Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

AU - Ravenscroft, Gianina

AU - Miyatake, Satoko

AU - Lehtokari, Vilma-Lotta

AU - Todd, Emily J

AU - Vornanen, Pauliina

AU - Yau, Kyle S

AU - Hayashi, Yukiko K

AU - Miyake, Noriko

AU - Tsurusaki, Yoshinori

AU - Doi, Hiroshi

AU - Saitsu, Hirotomo

AU - Osaka, Hitoshi

AU - Yamashita, Sumimasa

AU - Ohya, Takashi

AU - Sakamoto, Yuko

AU - Koshmizu, Eriko

AU - Imamura, Shintaro

AU - Yamashita, Michiaki

AU - Ogata, Kazuhiro

AU - Shiina, Masaaki

AU - Bryson-Richardson, Robert James

AU - Rodrigues Vaz, Raquel

AU - Ceyhan, Ozge

AU - Brownstein, Catherine

AU - Swanson, Lindsay C

AU - Monnot, Sophie

AU - Romero, Norma B

AU - Amthor, Helge

AU - Kresoje, Nina

AU - Sivadorai, Padma

AU - Kiraly-Borri, Cathy

AU - Haliloglu, Gokur

AU - Talim, Beril

AU - Orhan, Diclehan

AU - Kale, Gulsev

AU - Charles, Adrian K

AU - Fabian, Victoria A

AU - Davis, Mark R

AU - Lammens, Martin

AU - Sewry, Caroline A

AU - Manzur, Adnan

AU - Muntoni, Francesco

AU - Clarke, Nigel F

AU - North, Kathryn N

AU - Bertini, Enrico

AU - Nevo, Yoram

AU - Willichowski, Ekkhard

AU - Silberg, Inger E

AU - Topaloglu, Haluk

AU - Beggs, Alan H

AU - Allcock, Richard J N

AU - Nishino, Ichizo

AU - Wallgren-Pettersson, Carina

AU - Matsumoto, Naomichi

AU - Lang, Nigel G

PY - 2013

Y1 - 2013

U2 - 10.1016/j.ajhg.2013.05.004

DO - 10.1016/j.ajhg.2013.05.004

M3 - Article

SN - 0002-9297

VL - 93

SP - 6

EP - 18

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -