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

Gina Ravenscroft; S. Miyatake; V.-L. Lehtokari; Emily Todd; P. Vornanen; Kyle Yau; Y.K. Hayashi; N. Miyake; Y. Tsurusaki; H. Doi; H. Saitsu; H. Osaka; S. Yamashita; T. Ohya; Y. Sakamoto; E. Koshimizu; S. Imamura; M. Yamashita; K. Ogata; M. Shiina; R.J. Bryson-Richardson; R. Vaz; O. Ceyhan; C.A. Brownstein; L.C. Swanson; S. Monnot; N.B. Romero; H. Amthor; Nina Kresoje; P. Sivadorai; C. Kiraly-Borri; G. Haliloglu; B. Talim; D. Orhan; G. Kale; Adrian Charles; V.A. Fabian; M.R. Davis; M. Lammens; C.A. Sewry; A. Manzur; F. Muntoni; N.F. Clarke; K.N. North; E. Bertini; Y. Nevo; E. Willichowski; I.E. Silberg; H. Topaloglu; A.H. Beggs; Richard Allcock; I. Nishino; C. Wallgren-Pettersson; N. Matsumoto; Nigel Laing

doi:10.1016/j.ajhg.2013.05.004

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

Gina Ravenscroft, S. Miyatake, V.-L. Lehtokari, Emily Todd, P. Vornanen, Kyle Yau, Y.K. Hayashi, N. Miyake, Y. Tsurusaki, H. Doi, H. Saitsu, H. Osaka, S. Yamashita, T. Ohya, Y. Sakamoto, E. Koshimizu, S. Imamura, M. Yamashita, K. Ogata, M. ShiinaR.J. Bryson-Richardson, R. Vaz, O. Ceyhan, C.A. Brownstein, L.C. Swanson, S. Monnot, N.B. Romero, H. Amthor, Nina Kresoje, P. Sivadorai, C. Kiraly-Borri, G. Haliloglu, B. Talim, D. Orhan, G. Kale, Adrian Charles, V.A. Fabian, M.R. Davis, M. Lammens, C.A. Sewry, A. Manzur, F. Muntoni, N.F. Clarke, K.N. North, E. Bertini, Y. Nevo, E. Willichowski, I.E. Silberg, H. Topaloglu, A.H. Beggs, Richard Allcock, I. Nishino, C. Wallgren-Pettersson, N. Matsumoto, Nigel Laing

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

169 Citations (Scopus)

Original language	English
Pages (from-to)	6-18
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

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10.1016/j.ajhg.2013.05.004

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Ravenscroft, G., Miyatake, S., Lehtokari, V.-L., Todd, E., Vornanen, P., Yau, K., Hayashi, Y. K., Miyake, N., Tsurusaki, Y., Doi, H., Saitsu, H., Osaka, H., Yamashita, S., Ohya, T., Sakamoto, Y., Koshimizu, E., Imamura, S., Yamashita, M., Ogata, K., ... Laing, N. (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

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title = "Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy",

author = "Gina Ravenscroft and S. Miyatake and V.-L. Lehtokari and Emily Todd and P. Vornanen and Kyle Yau and Y.K. Hayashi and N. Miyake and Y. Tsurusaki and H. Doi and H. Saitsu and H. Osaka and S. Yamashita and T. Ohya and Y. Sakamoto and E. Koshimizu and S. Imamura and M. Yamashita and K. Ogata and M. Shiina and R.J. Bryson-Richardson and R. Vaz and O. Ceyhan and C.A. Brownstein and L.C. Swanson and S. Monnot and N.B. Romero and H. Amthor and Nina Kresoje and P. Sivadorai and C. Kiraly-Borri and G. Haliloglu and B. Talim and D. Orhan and G. Kale and Adrian Charles and V.A. Fabian and M.R. Davis and M. Lammens and C.A. Sewry and A. Manzur and F. Muntoni and N.F. Clarke and K.N. North and E. Bertini and Y. Nevo and E. Willichowski and I.E. Silberg and H. Topaloglu and A.H. Beggs and Richard Allcock and I. Nishino and C. Wallgren-Pettersson and N. Matsumoto and Nigel Laing",

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 = "UNIV CHICAGO PRESS",

number = "1",

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Ravenscroft, G, Miyatake, S, Lehtokari, V-L, Todd, E, Vornanen, P, Yau, K, Hayashi, YK, Miyake, N, Tsurusaki, Y, Doi, H, Saitsu, H, Osaka, H, Yamashita, S, Ohya, T, Sakamoto, Y, Koshimizu, E, Imamura, S, Yamashita, M, Ogata, K, Shiina, M, Bryson-Richardson, RJ, Vaz, R, Ceyhan, O, Brownstein, CA, Swanson, LC, Monnot, S, Romero, NB, Amthor, H, Kresoje, N, Sivadorai, P, Kiraly-Borri, C, Haliloglu, G, Talim, B, Orhan, D, Kale, G, Charles, A, 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, R, Nishino, I, Wallgren-Pettersson, C, Matsumoto, N & Laing, N 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, Gina

AU - Miyatake, S.

AU - Lehtokari, V.-L.

AU - Todd, Emily

AU - Vornanen, P.

AU - Yau, Kyle

AU - Hayashi, Y.K.

AU - Miyake, N.

AU - Tsurusaki, Y.

AU - Doi, H.

AU - Saitsu, H.

AU - Osaka, H.

AU - Yamashita, S.

AU - Ohya, T.

AU - Sakamoto, Y.

AU - Koshimizu, E.

AU - Imamura, S.

AU - Yamashita, M.

AU - Ogata, K.

AU - Shiina, M.

AU - Bryson-Richardson, R.J.

AU - Vaz, R.

AU - Ceyhan, O.

AU - Brownstein, C.A.

AU - Swanson, L.C.

AU - Monnot, S.

AU - Romero, N.B.

AU - Amthor, H.

AU - Kresoje, Nina

AU - Sivadorai, P.

AU - Kiraly-Borri, C.

AU - Haliloglu, G.

AU - Talim, B.

AU - Orhan, D.

AU - Kale, G.

AU - Charles, Adrian

AU - Fabian, V.A.

AU - Davis, M.R.

AU - Lammens, M.

AU - Sewry, C.A.

AU - Manzur, A.

AU - Muntoni, F.

AU - Clarke, N.F.

AU - North, K.N.

AU - Bertini, E.

AU - Nevo, Y.

AU - Willichowski, E.

AU - Silberg, I.E.

AU - Topaloglu, H.

AU - Beggs, A.H.

AU - Allcock, Richard

AU - Nishino, I.

AU - Wallgren-Pettersson, C.

AU - Matsumoto, N.

AU - Laing, Nigel

PY - 2013

Y1 - 2013

U2 - 10.1016/j.ajhg.2013.05.004

DO - 10.1016/j.ajhg.2013.05.004

M3 - Article

C2 - 23746549

SN - 0002-9297

VL - 93

SP - 6

EP - 18

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 1

ER -