Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael Duff; V. Tay; P. Hackman; Gina Ravenscroft; C. Mclean; P. Kennedy; A. Steinbach; W. Schöffler; P.F.M. Van Der Ven; D.O. Fürst; J. Song; K. Dijnović-Carugo; S. Penttilä; O Raheem; K Reardon; A. Malandrini; S. Gambelli; M. Villanova; Kristen Nowak; D.R. Williams; J.E. Landers; R.H. Brown Jr; B. Udd; Nigel Laing

doi:10.1016/j.ajhg.2011.04.021

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

Rachael Duff, V. Tay, P. Hackman, Gina Ravenscroft, C. Mclean, P. Kennedy, A. Steinbach, W. Schöffler, P.F.M. Van Der Ven, D.O. Fürst, J. Song, K. Dijnović-Carugo, S. Penttilä, O Raheem, K Reardon, A. Malandrini, S. Gambelli, M. Villanova, Kristen Nowak, D.R. WilliamsJ.E. Landers, R.H. Brown Jr, B. Udd, Nigel Laing

UWA Centre for Medical Research (affiliated with the Harry Perkins Institute of Medical Research)

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

120 Citations (Scopus)

Original language	English
Pages (from-to)	1-6
Journal	American Journal of Human Genetics
Volume	88
DOIs	https://doi.org/10.1016/j.ajhg.2011.04.021
Publication status	Published - 2011

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10.1016/j.ajhg.2011.04.021

Cite this

Duff, R., Tay, V., Hackman, P., Ravenscroft, G., Mclean, C., Kennedy, P., Steinbach, A., Schöffler, W., Van Der Ven, P. F. M., Fürst, D. O., Song, J., Dijnović-Carugo, K., Penttilä, S., Raheem, O., Reardon, K., Malandrini, A., Gambelli, S., Villanova, M., Nowak, K., ... Laing, N. (2011). Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy. American Journal of Human Genetics, 88, 1-6. https://doi.org/10.1016/j.ajhg.2011.04.021

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title = "Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy",

author = "Rachael Duff and V. Tay and P. Hackman and Gina Ravenscroft and C. Mclean and P. Kennedy and A. Steinbach and W. Sch{\"o}ffler and {Van Der Ven}, P.F.M. and D.O. F{\"u}rst and J. Song and K. Dijnovi{\'c}-Carugo and S. Penttil{\"a} and O Raheem and K Reardon and A. Malandrini and S. Gambelli and M. Villanova and Kristen Nowak and D.R. Williams and J.E. Landers and {Brown Jr}, R.H. and B. Udd and Nigel Laing",

year = "2011",

doi = "10.1016/j.ajhg.2011.04.021",

language = "English",

volume = "88",

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Duff, R, Tay, V, Hackman, P, Ravenscroft, G, Mclean, C, Kennedy, P, Steinbach, A, Schöffler, W, Van Der Ven, PFM, Fürst, DO, Song, J, Dijnović-Carugo, K, Penttilä, S, Raheem, O, Reardon, K, Malandrini, A, Gambelli, S, Villanova, M, Nowak, K, Williams, DR, Landers, JE, Brown Jr, RH, Udd, B & Laing, N 2011, 'Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy', American Journal of Human Genetics, vol. 88, pp. 1-6. https://doi.org/10.1016/j.ajhg.2011.04.021

TY - JOUR

T1 - Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

AU - Duff, Rachael

AU - Tay, V.

AU - Hackman, P.

AU - Ravenscroft, Gina

AU - Mclean, C.

AU - Kennedy, P.

AU - Steinbach, A.

AU - Schöffler, W.

AU - Van Der Ven, P.F.M.

AU - Fürst, D.O.

AU - Song, J.

AU - Dijnović-Carugo, K.

AU - Penttilä, S.

AU - Raheem, O

AU - Reardon, K

AU - Malandrini, A.

AU - Gambelli, S.

AU - Villanova, M.

AU - Nowak, Kristen

AU - Williams, D.R.

AU - Landers, J.E.

AU - Brown Jr, R.H.

AU - Udd, B.

AU - Laing, Nigel

PY - 2011

Y1 - 2011

U2 - 10.1016/j.ajhg.2011.04.021

DO - 10.1016/j.ajhg.2011.04.021

M3 - Article

C2 - 21620354

SN - 0002-9297

VL - 88

SP - 1

EP - 6

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -